ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys)

gnomAD frequency: 0.00003  dbSNP: rs767975012
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667139 SCV000791544 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001056892 SCV001221357 uncertain significance not provided 2024-10-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1641 of the MYO7A protein (p.Glu1641Lys). This variant is present in population databases (rs767975012, gnomAD 0.02%). This missense change has been observed in individual(s) with hearing loss (PMID: 23237960, 33924653). ClinVar contains an entry for this variant (Variation ID: 551961). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MYO7A protein function with a negative 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.
GeneDx RCV001056892 SCV002099590 uncertain significance not provided 2022-02-22 criteria provided, single submitter clinical testing Reported in unrelated patients with hearing loss in published literature (Miyagawa et al., 2013; Santos-Cortez et al., 2021); 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: 23967202, 23237960, 33924653)
Natera, Inc. RCV001835081 SCV002088475 uncertain significance Usher syndrome type 1B 2020-02-17 no assertion criteria provided clinical testing

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