ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=)

gnomAD frequency: 0.00361  dbSNP: rs139512700
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000204223 SCV000262081 benign Alstrom syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001711618 SCV000533282 benign not provided 2019-08-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000440341 SCV000864105 likely benign not specified 2016-02-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000440341 SCV000967033 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Tyr394Tyr in exon 5 of ALMS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1.17% (114/9744) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs139512700).
Ambry Genetics RCV002336572 SCV002637989 benign Cardiovascular phenotype 2019-01-21 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.
Breakthrough Genomics, Breakthrough Genomics RCV001711618 SCV005257555 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001711618 SCV001978309 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001711618 SCV001980047 likely benign not provided no assertion criteria provided clinical testing

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