Submissions for variant NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys)

gnomAD frequency: 0.00865  dbSNP: rs116769827

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000218788	SCV000269148	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Ser354Cys in exon 11 of HPS4: This variant is not expected to have clinical sign ificance because it has been identified in 2.6% (114/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs116769827).
Illumina Laboratory Services, Illumina	RCV000387021	SCV000437655	benign	Hermansky-Pudlak syndrome 4	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000961732	SCV001108785	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000961732	SCV005273813	benign	not provided		criteria provided, single submitter	not provided