ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg)

gnomAD frequency: 0.00046  dbSNP: rs200843771
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Total submissions: 5
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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 RCV000601972 SCV000711142 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Gln3365Arg va riant in MYO15A has not been previously reported in individuals with hearing los s, but it has been identified in 0.1% (12/9576) of African chromosomes by the Ex ome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200843 771). Although this variant has been seen in the general population, its frequen cy is not high enough to rule out a pathogenic role. The glutamine at position 3 365 is not conserved in mammals or evolutionary distant species; with 2 species (elephant and manatee) having an arginine (Arg) at this position supporting that a change at this position may be tolerated. Additional computational prediction tools do not provide strong support for or against an impact to the protein. I n summary, while the clinical significance of the p.Gln3365Arg variant is uncert ain, available data suggest that it is more likely to be benign.
Fulgent Genetics, Fulgent Genetics RCV000765340 SCV000896603 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001461717 SCV001665625 likely benign not provided 2024-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001461717 SCV001800955 uncertain significance not provided 2020-04-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004024885 SCV004947872 uncertain significance Inborn genetic diseases 2020-12-31 criteria provided, single submitter clinical testing The c.10094A>G (p.Q3365R) alteration is located in exon 63 (coding exon 62) of the MYO15A gene. This alteration results from an A to G substitution at nucleotide position 10094, causing the glutamine (Q) at amino acid position 3365 to be replaced by an arginine (R). Based on data from the Genome Aggregation Database (gnomAD) database, the MYO15A c.10094A>G alteration was observed in 0.01% (38/280546) of total alleles studied, with a frequency of 0.15% (37/24164) in the African subpopulation. This amino acid position is well conserved in available vertebrate species. The p.Q3365R alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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