Submissions for variant NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp)

gnomAD frequency: 0.00016  dbSNP: rs148652047

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725802	SCV000339507	uncertain significance	not provided	2017-04-06	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000329065	SCV000613190	uncertain significance	not specified	2017-06-29	criteria provided, single submitter	clinical testing
Invitae	RCV000559041	SCV000649622	likely benign	Qualitative or quantitative defects of dysferlin	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725802	SCV001152335	uncertain significance	not provided	2022-05-01	criteria provided, single submitter	clinical testing	DYSF: PM2
Genetic Services Laboratory, University of Chicago	RCV000329065	SCV002070945	uncertain significance	not specified	2020-04-29	criteria provided, single submitter	clinical testing	DNA sequence analysis of the DYSF gene demonstrated a sequence change, c.2050C>T, in exon 21 that results in an amino acid change, p.Arg684Trp. This sequence change does not appear to have been previously described in patients with DYSF-related disorders and has been described in the gnomAD database with a low population frequency of 0.034% in the non-Finnish subpopulations (dbSNP rs148652047). The p.Arg684Trp change affects a moderately conserved amino acid residue located in a domain of the DYSF protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Arg684Trp substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Arg684Trp change remains unknown at this time.
Revvity Omics, Revvity	RCV000725802	SCV003831263	uncertain significance	not provided	2020-07-14	criteria provided, single submitter	clinical testing