ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys)

gnomAD frequency: 0.00280  dbSNP: rs138861831
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000323567 SCV000341817 likely benign not specified 2016-05-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312671 SCV000401146 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000312671 SCV000604400 benign Autosomal recessive nonsyndromic hearing loss 3 2020-04-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000323567 SCV000711132 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg1630Cys in Exon 17 of MYO15A: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (23/3496) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs138861831).
Invitae RCV000959372 SCV001106275 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000959372 SCV001144646 likely benign not provided 2019-02-22 criteria provided, single submitter clinical testing
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV001543604 SCV001519340 uncertain significance Childhood onset hearing loss 2021-07-08 criteria provided, single submitter research PM1, PP3 (non REVEL) / Modifications from PMID: 30311386 for classification: The genetic causes of hearing loss have not yet been well characterized in the Yoruba population, and the information regarding variant MAF in this population is still limited, so we did not exclude any variant based on their "high" MAF. PP3 criteria was applied even if the REVEL score was below 0.7, if at least two of the pathogenicity prediction algorithms used predicted that the variant was damaging or likely damaging.
GeneDx RCV000959372 SCV001750917 benign not provided 2020-11-30 criteria provided, single submitter clinical testing

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