ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) (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, Partners HealthCare 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 Deafness, autosomal recessive 2; Usher syndrome type 1 2017-03-17 criteria provided, single submitter clinical testing
Mendelics RCV000988612 SCV001138391 benign Deafness, autosomal recessive 2 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001244369 SCV001417583 uncertain significance not provided 2019-10-18 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1454 of the MYO7A protein (p.Val1454Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs397516309, ExAC 0.09%). This variant has been observed in an individual affected with Usher syndrome (PMID: 26338283). ClinVar contains an entry for this variant (Variation ID: 43237). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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