ClinVar Miner

Submissions for variant NM_001101362.2(KBTBD13):c.251G>C (p.Cys84Ser) (rs999785767)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000554016 SCV000743955 uncertain significance Nemaline myopathy 6 2017-03-14 criteria provided, single submitter clinical testing
Invitae RCV000554016 SCV000638784 uncertain significance Nemaline myopathy 6 2017-04-26 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 84 of the KBTBD13 protein (p.Cys84Ser). The cysteine residue is moderately conserved and there is a moderate physicochemical difference between cysteine and serine. While this variant is not present in population databases (ExAC, no frequency), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a KBTBD13-related disease. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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