Submissions for variant NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu)

gnomAD frequency: 0.00176  dbSNP: rs116424900

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127437	SCV000171002	benign	not specified	2014-04-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina	RCV000625410	SCV000362002	uncertain significance	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625410	SCV000745264	likely benign	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	2017-06-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000676293	SCV001147855	likely benign	not provided	2021-09-01	criteria provided, single submitter	clinical testing
Invitae	RCV000676293	SCV002431903	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625410	SCV000745857	likely benign	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	2016-11-14	no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676293	SCV000802050	likely benign	not provided	2017-11-01	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000676293	SCV001922065	likely benign	not provided		no assertion criteria provided	clinical testing