Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000379557 | SCV000343338 | uncertain significance | not provided | 2016-08-19 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000267888 | SCV000359647 | uncertain significance | Hermansky-Pudlak syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000379557 | SCV003263749 | uncertain significance | not provided | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 639 of the HPS1 protein (p.Gly639Ser). This variant is present in population databases (rs116698870, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with Hermansky-Pudlak syndrome and associated pulmonary fibrosis (PMID: 30985222). ClinVar contains an entry for this variant (Variation ID: 289062). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt HPS1 protein function. 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. |
Prevention |
RCV003401266 | SCV004102943 | uncertain significance | HPS1-related condition | 2023-10-03 | criteria provided, single submitter | clinical testing | The HPS1 c.1915G>A variant is predicted to result in the amino acid substitution p.Gly639Ser. This variant was reported in an individual with Hermansky-Pudlak syndrome (Stearman. 2019. PubMed ID: 30985222). This variant is reported in 0.086% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-100177957-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Zotz- |
RCV003444227 | SCV004171681 | uncertain significance | Hermansky-Pudlak syndrome 1 | 2023-11-24 | no assertion criteria provided | clinical testing |