ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.370G>T (p.Gly124Trp)

dbSNP: rs766916912
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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 RCV001981202 SCV002283408 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with tryptophan at codon 124 of the HPS6 protein (p.Gly124Trp). The glycine residue is moderately conserved and there is a large physicochemical difference between glycine and tryptophan. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with HPS6-related conditions. 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.
Revvity Omics, Revvity RCV003130665 SCV003808771 uncertain significance Hermansky-Pudlak syndrome 6 2021-08-31 criteria provided, single submitter clinical testing

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