Submissions for variant NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)

gnomAD frequency: 0.00082  dbSNP: rs145690047

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080289	SCV000112184	likely benign	not specified	2016-11-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000273478	SCV000431822	uncertain significance	Miyoshi myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000330853	SCV000431823	uncertain significance	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000080289	SCV000613211	benign	not specified	2017-02-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000539088	SCV000649692	benign	Qualitative or quantitative defects of dysferlin	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001719834	SCV000721223	benign	not provided	2020-02-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000539088	SCV001303233	uncertain significance	Qualitative or quantitative defects of dysferlin	2018-01-12	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.
CeGaT Center for Human Genetics Tuebingen	RCV001719834	SCV005074700	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	DYSF: BP4, BP7, BS1
Natera, Inc.	RCV001826718	SCV002082324	benign	Autosomal recessive limb-girdle muscular dystrophy type 2B	2019-10-22	no assertion criteria provided	clinical testing