ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro)

gnomAD frequency: 0.00334  dbSNP: rs61731652
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Total submissions: 6
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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 RCV000155376 SCV000205063 benign not specified 2017-03-15 criteria provided, single submitter clinical testing p.Ala317Pro in exon 10 of MYO3A: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (112/10288) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs61731652).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001106846 SCV000604420 benign Autosomal recessive nonsyndromic hearing loss 30 2020-12-17 criteria provided, single submitter clinical testing
Invitae RCV000755319 SCV001042309 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001106846 SCV001263955 uncertain significance Autosomal recessive nonsyndromic hearing loss 30 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.
GeneDx RCV000755319 SCV001768629 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516128 SCV003694293 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.949G>C (p.A317P) alteration is located in exon 10 (coding exon 8) of the MYO3A gene. This alteration results from a G to C substitution at nucleotide position 949, causing the alanine (A) at amino acid position 317 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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