Submissions for variant NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys)

gnomAD frequency: 0.00200  dbSNP: rs116426399

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000291125	SCV000343365	benign	not specified	2016-07-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085337	SCV000649674	likely benign	Qualitative or quantitative defects of dysferlin	2025-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000526675	SCV000714642	likely benign	not provided	2019-07-08	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000291125	SCV001143820	likely benign	not specified	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001085337	SCV001297890	likely benign	Qualitative or quantitative defects of dysferlin	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000526675	SCV001501280	likely benign	not provided	2020-09-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004975396	SCV005571585	uncertain significance	Inborn genetic diseases	2024-11-12	criteria provided, single submitter	clinical testing	The c.3914C>A (p.T1305K) alteration is located in exon 37 (coding exon 37) of the DYSF gene. This alteration results from a C to A substitution at nucleotide position 3914, causing the threonine (T) at amino acid position 1305 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003967764	SCV004785524	likely benign	DYSF-related disorder	2019-12-18	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).