ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.1810C>G (p.Leu604Val)

gnomAD frequency: 0.00001  dbSNP: rs762013198
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001108744 SCV001266016 uncertain significance Hermansky-Pudlak syndrome 6 2017-04-28 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.
Invitae RCV001856451 SCV002128720 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 604 of the HPS6 protein (p.Leu604Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs762013198, ExAC 0.002%). This missense change has been observed in individual(s) with a bleeding and/or platelet disorder (PMID: 25949529). ClinVar contains an entry for this variant (Variation ID: 880437). 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.

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