ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile)

gnomAD frequency: 0.00001  dbSNP: rs397516309
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Total submissions: 4
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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 RCV000036141 SCV000059793 likely benign not specified 2011-02-17 criteria provided, single submitter clinical testing Val1454Ile in exon 33 of MYO7A: This variant is not expected to have clinical si gnificance because computational analyses (PolyPhen2, SIFT, AlignGVGD) do not su ggest a high likelihood of impact to the protein. Of note, fruitfly has an isole ucine at this position despite high nearby amino acid conservation.
Counsyl RCV000666151 SCV000790395 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-03-17 criteria provided, single submitter clinical testing
Mendelics RCV000988612 SCV001138391 benign Autosomal recessive nonsyndromic hearing loss 2 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001244369 SCV001417583 uncertain significance not provided 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1454 of the MYO7A protein (p.Val1454Ile). This variant is present in population databases (rs397516309, gnomAD 0.04%). This missense change has been observed in individual(s) with Usher syndrome (PMID: 26338283). ClinVar contains an entry for this variant (Variation ID: 43237). 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.

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