ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.500G>C (p.Arg167Thr)

gnomAD frequency: 0.00001  dbSNP: rs770901442
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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 RCV001337792 SCV001531408 uncertain significance Hermansky-Pudlak syndrome 9 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 167 of the BLOC1S6 protein (p.Arg167Thr). This variant is present in population databases (rs770901442, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BLOC1S6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1034991). 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: "Benign"; 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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