Submissions for variant NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)

gnomAD frequency: 0.00059  dbSNP: rs146970014

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000656846	SCV000229708	uncertain significance	not provided	2017-04-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000656846	SCV000564952	uncertain significance	not provided	2025-02-07	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24438169)
Athena Diagnostics	RCV000177777	SCV000613203	uncertain significance	not specified	2016-12-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084687	SCV001018437	benign	Qualitative or quantitative defects of dysferlin	2024-09-05	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001336578	SCV001529989	uncertain significance	Miyoshi muscular dystrophy 1	2018-01-02	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen	RCV000656846	SCV002063872	uncertain significance	not provided	2021-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002516753	SCV003549042	uncertain significance	Inborn genetic diseases	2021-09-17	criteria provided, single submitter	clinical testing	The c.3760C>T (p.R1254W) alteration is located in exon 34 (coding exon 34) of the DYSF gene. This alteration results from a C to T substitution at nucleotide position 3760, causing the arginine (R) at amino acid position 1254 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV000656846	SCV003830881	uncertain significance	not provided	2023-06-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937609	SCV004751332	likely benign	DYSF-related disorder	2022-07-07	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).