Submissions for variant NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)

gnomAD frequency: 0.00021  dbSNP: rs150834671

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725370	SCV000336413	uncertain significance	not provided	2015-11-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000407709	SCV000431856	uncertain significance	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000308010	SCV000431857	uncertain significance	Miyoshi myopathy	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000725370	SCV000590122	uncertain significance	not provided	2019-09-11	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae	RCV000543402	SCV000649741	likely benign	Qualitative or quantitative defects of dysferlin	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000543402	SCV001298131	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.
Genome-Nilou Lab	RCV001449586	SCV001652726	uncertain significance	Miyoshi muscular dystrophy 1	2021-05-18	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000725370	SCV003831340	uncertain significance	not provided	2020-02-13	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000725370	SCV004229613	uncertain significance	not provided	2022-10-27	criteria provided, single submitter	clinical testing	Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
Natera, Inc.	RCV001276874	SCV001463489	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2B	2020-01-24	no assertion criteria provided	clinical testing