ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) (rs782279338)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670895 SCV000795808 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV001067075 SCV001232108 likely pathogenic not provided 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 395 of the MYO7A protein (p.Arg395Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed to segregate with hearing loss in families (PMID: 23770805, 27573290). ClinVar contains an entry for this variant (Variation ID: 555138). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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