ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2717G>A (p.Arg906His)

gnomAD frequency: 0.00003  dbSNP: rs868977760
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241415 SCV001414429 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 906 of the MYO7A protein (p.Arg906His). This variant is present in population databases (no rsID available, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 966679). 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 not expected to disrupt MYO7A protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002484324 SCV002792210 uncertain significance Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2021-07-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004960627 SCV005456107 uncertain significance Inborn genetic diseases 2024-08-01 criteria provided, single submitter clinical testing The c.2717G>A (p.R906H) alteration is located in exon 23 (coding exon 22) of the MYO7A gene. This alteration results from a G to A substitution at nucleotide position 2717, causing the arginine (R) at amino acid position 906 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835102 SCV002086637 uncertain significance Usher syndrome type 1B 2021-03-09 no assertion criteria provided clinical testing

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