ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4772G>A (p.Arg1591His)

gnomAD frequency: 0.00003  dbSNP: rs771059248
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246491 SCV001419849 uncertain significance not provided 2022-09-01 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 1591 of the MYO7A protein (p.Arg1591His). This variant is present in population databases (rs771059248, gnomAD 0.002%). 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: 970840). 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.
GeneDx RCV001246491 SCV001986993 uncertain significance not provided 2020-07-08 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
Ambry Genetics RCV002568657 SCV003676819 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.4772G>A (p.R1591H) alteration is located in exon 35 (coding exon 34) of the MYO7A gene. This alteration results from a G to A substitution at nucleotide position 4772, causing the arginine (R) at amino acid position 1591 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829993 SCV002088471 uncertain significance Usher syndrome type 1B 2021-04-21 no assertion criteria provided clinical testing

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