ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln)

gnomAD frequency: 0.00009  dbSNP: rs397516328
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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 RCV000036226 SCV000059878 uncertain significance not specified 2011-09-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg2070Gln vari ant in MYO7A has not been reported in the literature nor previously identified b y our laboratory. Computational analyses (biochemical amino acid properties, hom ology, PolyPhen2, SIFT, AlignGVGD) do not provide strong support for or against pathogenicity. In summary, the clinical significance of this variant cannot be d etermined at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001038973 SCV001202478 likely benign not provided 2024-03-17 criteria provided, single submitter clinical testing
GeneDx RCV001038973 SCV001813417 uncertain significance not provided 2024-05-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001831644 SCV002088537 uncertain significance Usher syndrome type 1B 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004734548 SCV005346596 uncertain significance MYO7A-related disorder 2024-09-18 no assertion criteria provided clinical testing The MYO7A c.6209G>A variant is predicted to result in the amino acid substitution p.Arg2070Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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