ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.1152C>T (p.His384=)

gnomAD frequency: 0.00060  dbSNP: rs113381494
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000341595 SCV000441550 uncertain significance Hermansky-Pudlak syndrome 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000608389 SCV000711323 likely benign not specified 2016-06-21 criteria provided, single submitter clinical testing p.His384His in exon 5 of HPS3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.1% (80/66738) of European chromosomes including 1 homozygote by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs113381494).
Invitae RCV000917358 SCV001062633 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828340 SCV002081511 benign Hermansky-Pudlak syndrome 2019-10-22 no assertion criteria provided clinical testing

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