ClinVar Miner

Submissions for variant NM_212550.5(BLOC1S3):c.505G>T (p.Ala169Ser)

dbSNP: rs200799185
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336199 SCV001529529 uncertain significance Hermansky-Pudlak syndrome 8 2018-01-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genetic Services Laboratory, University of Chicago RCV001820031 SCV002065051 uncertain significance not specified 2017-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002546766 SCV003275035 uncertain significance not provided 2022-10-17 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 169 of the BLOC1S3 protein (p.Ala169Ser). This variant is present in population databases (rs200799185, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BLOC1S3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033706). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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