ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.541A>G (p.Thr181Ala)

gnomAD frequency: 0.00019  dbSNP: rs144257610
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501662 SCV000595182 likely benign not specified 2017-02-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001103503 SCV001260269 uncertain significance Hermansky-Pudlak syndrome 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001857107 SCV002149298 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 181 of the HPS6 protein (p.Thr181Ala). This variant is present in population databases (rs144257610, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with HPS6-related conditions. ClinVar contains an entry for this variant (Variation ID: 435461). 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 RCV004023376 SCV004884756 uncertain significance Inborn genetic diseases 2024-01-19 criteria provided, single submitter clinical testing The c.541A>G (p.T181A) alteration is located in exon 1 (coding exon 1) of the HPS6 gene. This alteration results from a A to G substitution at nucleotide position 541, causing the threonine (T) at amino acid position 181 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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