ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.521C>G (p.Ser174Trp)

dbSNP: rs772025364
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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 RCV000813869 SCV000954250 uncertain significance Nemaline myopathy 6 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tryptophan, which is neutral and slightly polar, at codon 174 of the KBTBD13 protein (p.Ser174Trp). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 657290). This variant has not been reported in the literature in individuals affected with KBTBD13-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%).

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