ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.360C>T (p.Ser120=)

gnomAD frequency: 0.00128  dbSNP: rs150127220
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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036374 SCV000060027 benign not specified 2015-03-11 criteria provided, single submitter clinical testing p.Ser120Ser in exon 4 of TTR: This variant is not expected to have clinical sign ificance because it has been identified in 3.5% (300/8636) of East Asian chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs150127220).
Invitae RCV000206233 SCV000261520 benign Familial amyloid neuropathy 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253403 SCV000317523 benign Cardiovascular phenotype 2014-12-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina RCV000206233 SCV000408395 benign Familial amyloid neuropathy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics RCV000036374 SCV000616217 benign not specified 2017-02-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589654 SCV000696630 benign not provided 2016-06-22 criteria provided, single submitter clinical testing Variant summary: The TTR c.360C>T (p.Ser120Ser) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predicting no significant impact on splicing and ESE finder predicts changes of binding motifs for RNA splicing enhancers, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 339/121120 (1/357, 7 homozygotes), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic TTR variant of 1/31948 (0.0000313), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories classified this variant as benign. Taken together, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000589654 SCV000884815 benign not provided 2023-11-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770560 SCV000902008 benign Cardiomyopathy 2017-07-10 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173544 SCV001336634 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV000589654 SCV001850236 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000036374 SCV002066692 benign not specified 2021-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549443 SCV004756062 benign TTR-related disorder 2019-05-29 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000589654 SCV001741043 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000036374 SCV001923451 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000036374 SCV001927228 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000036374 SCV001952427 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000589654 SCV001975573 likely benign not provided no assertion criteria provided clinical testing
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000206233 SCV002029169 likely benign Familial amyloid neuropathy 2021-10-18 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000036374 SCV002035384 benign not specified no assertion criteria provided clinical testing

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