ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) (rs1555090442)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672010 SCV000797062 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2018-01-10 criteria provided, single submitter clinical testing
Invitae RCV001245615 SCV001418915 uncertain significance not provided 2019-10-14 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 1204 of the MYO7A protein (p.Pro1204Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Usher syndrome (PMID: 24498627). ClinVar contains an entry for this variant (Variation ID: 556065). 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 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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