Submissions for variant NM_181507.2(HPS5):c.139T>C (p.Leu47=)

gnomAD frequency: 0.02127  dbSNP: rs73432728

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000222816	SCV000269152	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Leu47Leu in exon 3 of HPS5: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 6.9% (302/4398) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs73432728).
PreventionGenetics, part of Exact Sciences	RCV000222816	SCV000316727	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000386571	SCV000369642	likely benign	Hermansky-Pudlak syndrome 5	2017-04-27	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000962116	SCV001109181	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000962116	SCV001911735	benign	not provided	2020-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000962116	SCV005223652	likely benign	not provided		criteria provided, single submitter	not provided