Submissions for variant NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)

gnomAD frequency: 0.00046  dbSNP: rs141137410

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000493108	SCV000342797	uncertain significance	not provided	2018-06-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000310014	SCV000431840	uncertain significance	Miyoshi myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000362344	SCV000431841	uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000493108	SCV000581999	likely benign	not provided	2020-02-27	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000388999	SCV000613212	uncertain significance	not specified	2017-02-15	criteria provided, single submitter	clinical testing
Invitae	RCV001079670	SCV000769849	likely benign	Qualitative or quantitative defects of dysferlin	2024-01-18	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000493108	SCV000927748	uncertain significance	not provided	2018-06-12	criteria provided, single submitter	clinical testing
Mendelics	RCV000986770	SCV001135890	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2B	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001079670	SCV001298482	uncertain significance	Qualitative or quantitative defects of dysferlin	2018-01-13	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.
Pars Genome Lab	RCV001526431	SCV001736817	uncertain significance	Miyoshi muscular dystrophy 1	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000493108	SCV001746653	uncertain significance	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000493108	SCV003830838	uncertain significance	not provided	2023-06-29	criteria provided, single submitter	clinical testing