ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.142G>T (p.Ala48Ser)

gnomAD frequency: 0.00002  dbSNP: rs200204287
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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 RCV001945935 SCV002203914 uncertain significance Hermansky-Pudlak syndrome 9 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 48 of the BLOC1S6 protein (p.Ala48Ser). This variant is present in population databases (rs200204287, gnomAD 0.002%). 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: 1427493). 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: "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.

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