Submissions for variant NM_004415.4(DSP):c.741G>A (p.Ala247=)

gnomAD frequency: 0.00083  dbSNP: rs2806234

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038087	SCV000061753	benign	not specified	2019-02-22	criteria provided, single submitter	clinical testing	The p.Ala247Ala variant (c.741T>A) represents a reference sequence error. It is classified as benign because it does not alter an amino acid residue and has been identified in 0.14% (173/126656) of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/). ACMG/AMP Criteria applied: BA1, BP4, BP7.
GeneDx	RCV000038087	SCV000168253	benign	not specified	2014-05-30	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.
Invitae	RCV000548688	SCV000641278	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-01-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170912	SCV001333551	benign	Cardiomyopathy	2019-03-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038087	SCV001360937	benign	not specified	2019-10-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001311701	SCV001474049	likely benign	not provided	2019-10-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001311701	SCV001501980	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	DSP: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001311701	SCV001740636	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038087	SCV001921396	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000038087	SCV001930566	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038087	SCV001974098	benign	not specified		no assertion criteria provided	clinical testing