ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.6328G>A (p.Gly2110Arg)

gnomAD frequency: 0.00001  dbSNP: rs756396137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521834 SCV000620351 uncertain significance not provided 2024-07-03 criteria provided, single submitter clinical testing Reported with a second variant (phase unknown) in unrelated patients with hearing loss referred for genetic testing at GeneDx and in published literature (PMID: 35982127); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35982127)
Fulgent Genetics, Fulgent Genetics RCV002476065 SCV002784058 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2021-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000521834 SCV004681190 uncertain significance not provided 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2110 of the MYO15A protein (p.Gly2110Arg). This variant is present in population databases (rs756396137, gnomAD 0.02%). This missense change has been observed in individual(s) with autosomal recessive deafness (PMID: 35982127). ClinVar contains an entry for this variant (Variation ID: 451628). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYO15A protein function with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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