ClinVar Miner

Submissions for variant NM_005198.5(CHKB):c.183G>T (p.Trp61Cys)

dbSNP: rs1603443790
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000805146 SCV000945091 uncertain significance Megaconial type congenital muscular dystrophy 2018-11-20 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with CHKB-related disease. This sequence change replaces tryptophan with cysteine at codon 61 of the CHKB protein (p.Trp61Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is not present in population databases (ExAC no frequency).

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