ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) (rs377326213)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592682 SCV000708439 uncertain significance not provided 2017-05-09 criteria provided, single submitter clinical testing
Counsyl RCV000670848 SCV000795759 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-11-22 criteria provided, single submitter clinical testing
Invitae RCV000592682 SCV001379797 uncertain significance not provided 2019-11-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 1045 of the MYO7A protein (p.Ile1045Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs377326213, ExAC 0.03%). This variant has been observed in individual(s) with Usher syndrome (PMID: 17361009). ClinVar contains an entry for this variant (Variation ID: 501914). 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: "Benign"; 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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