ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.563G>T (p.Arg188Ile)

dbSNP: rs370165036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000320489 SCV000340088 uncertain significance not provided 2016-03-10 criteria provided, single submitter clinical testing
Invitae RCV000639974 SCV000761560 uncertain significance Myofibrillar myopathy 3 2017-11-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYOT-related disease. ClinVar contains an entry for this variant (Variation ID: 286597). This variant is present in population databases (rs370165036, ExAC 0.001%). This sequence change replaces arginine with isoleucine at codon 188 of the MYOT protein (p.Arg188Ile). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and isoleucine.
Athena Diagnostics RCV000320489 SCV001880327 uncertain significance not provided 2020-10-14 criteria provided, single submitter clinical testing

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