ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln)

gnomAD frequency: 0.00003  dbSNP: rs765083332
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414725 SCV000491906 uncertain significance not specified 2016-11-29 criteria provided, single submitter clinical testing The R2079Q variant in the MYO7A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R2079Q variant was not observed in approximately 6100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R2079Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R2079Q as a variant of uncertain significance.
Invitae RCV001304904 SCV001494210 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2079 of the MYO7A protein (p.Arg2079Gln). This variant is present in population databases (rs765083332, gnomAD 0.01%). This missense change has been observed in individual(s) with deafness (PMID: 33105617). ClinVar contains an entry for this variant (Variation ID: 373321). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Pars Genome Lab RCV001526422 SCV001736780 uncertain significance Usher syndrome type 1 2021-05-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526422 SCV001806010 uncertain significance Usher syndrome type 1 2021-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480266 SCV002777696 uncertain significance Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2022-03-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828385 SCV002088538 uncertain significance Usher syndrome type 1B 2019-11-11 no assertion criteria provided clinical testing

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