Submissions for variant NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser)

gnomAD frequency: 0.00101  dbSNP: rs35496669

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192865	SCV000249034	uncertain significance	not specified	2015-03-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000872899	SCV000450003	uncertain significance	SRD5A3-congenital disorder of glycosylation	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.
GeneDx	RCV001705093	SCV000527249	likely benign	not provided	2019-07-03	criteria provided, single submitter	clinical testing
Invitae	RCV000872899	SCV001014790	likely benign	SRD5A3-congenital disorder of glycosylation	2023-11-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705093	SCV004150677	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	SRD5A3: BP4, BS2