ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.182T>G (p.Leu61Trp)

gnomAD frequency: 0.00001  dbSNP: rs1048656816
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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 RCV000696021 SCV000824564 uncertain significance Hermansky-Pudlak syndrome 9 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 61 of the BLOC1S6 protein (p.Leu61Trp). This variant is not present in population databases (gnomAD no frequency). 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: 574164). 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 disruptive. 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 RCV004026359 SCV004913101 uncertain significance Inborn genetic diseases 2024-01-31 criteria provided, single submitter clinical testing The c.182T>G (p.L61W) alteration is located in exon 2 (coding exon 2) of the BLOC1S6 gene. This alteration results from a T to G substitution at nucleotide position 182, causing the leucine (L) at amino acid position 61 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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