ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln)

gnomAD frequency: 0.00020  dbSNP: rs200781310
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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 RCV000151417 SCV000199435 uncertain significance not specified 2014-09-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg2903Gln vari ant in MYO15A has not been previously reported in individuals with hearing loss, but has been identified in 0.07% (6/8308) of European American chromosomes by t he NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs20 0781310). The arginine (Arg) residue at position 2903 is not fully conserved in mammals and across evolutionarily distant species, with one mammal (squirrel mon key) having glutamine (Gln) at this position, which raises the possibility that this change may be tolerated. Additional computational prediction tools do not p rovide strong support for or against an impact to the protein. In summary, while the clinical significance of the Arg2903Gln variant is uncertain, the frequency and conservation data suggest that it is more likely to be benign.
GeneDx RCV001657857 SCV001872807 uncertain significance not provided 2024-05-15 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001657857 SCV002282617 likely benign not provided 2024-02-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492559 SCV002778085 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2022-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516042 SCV003596395 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.8708G>A (p.R2903Q) alteration is located in exon 49 (coding exon 48) of the MYO15A gene. This alteration results from a G to A substitution at nucleotide position 8708, causing the arginine (R) at amino acid position 2903 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001657857 SCV004224327 uncertain significance not provided 2022-10-28 criteria provided, single submitter clinical testing BP4, PM2_supporting

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