ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.51C>T (p.Pro17=)

gnomAD frequency: 0.00097  dbSNP: rs141883346
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214766 SCV000270269 likely benign not specified 2016-01-29 criteria provided, single submitter clinical testing p.Pro17Pro in exon 1 of HPS3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.1% (111/59912) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs141883346).
PreventionGenetics, part of Exact Sciences RCV000214766 SCV000314904 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305766 SCV000441535 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.
Invitae RCV000895086 SCV001039104 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272470 SCV001454531 likely benign Hermansky-Pudlak syndrome 2020-09-16 no assertion criteria provided clinical testing

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