ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.360C>T (p.Ser120=) (rs150127220)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare 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 Amyloidogenic transthyretin amyloidosis 2019-12-31 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: 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 Clinical Services Laboratory,Illumina RCV000206233 SCV000408395 benign Amyloidogenic transthyretin amyloidosis 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 Inc RCV000036374 SCV000616217 benign not specified 2017-02-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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 RCV000036374 SCV000884815 benign not specified 2019-01-02 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

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