ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.79C>T (p.Pro27Ser)

gnomAD frequency: 0.00031  dbSNP: rs138284359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685561 SCV000813046 uncertain significance Hermansky-Pudlak syndrome 9 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 27 of the BLOC1S6 protein (p.Pro27Ser). This variant is present in population databases (rs138284359, gnomAD 0.07%). 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: 565888). 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.
Ambry Genetics RCV004026200 SCV004913103 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing The c.79C>T (p.P27S) alteration is located in exon 1 (coding exon 1) of the BLOC1S6 gene. This alteration results from a C to T substitution at nucleotide position 79, causing the proline (P) at amino acid position 27 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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