ClinVar Miner

Submissions for variant NM_001080467.3(MYO5B):c.617T>C (p.Ile206Thr)

gnomAD frequency: 0.00001  dbSNP: rs1166138315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990099 SCV001140893 likely pathogenic Congenital microvillous atrophy 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858719 SCV002249382 uncertain significance not provided 2021-10-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 206 of the MYO5B protein (p.Ile206Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MYO5B-related conditions. ClinVar contains an entry for this variant (Variation ID: 803492). 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: "Possibly 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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