ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)

gnomAD frequency: 0.00010  dbSNP: rs199955501
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726161 SCV000342517 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000356789 SCV000431698 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264345 SCV000431699 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000402278 SCV000525113 likely benign not specified 2016-03-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000665200 SCV000789275 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-01-20 criteria provided, single submitter clinical testing
Invitae RCV001080526 SCV001016908 likely benign Qualitative or quantitative defects of dysferlin 2024-01-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000726161 SCV001143810 likely benign not provided 2019-06-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001080526 SCV001297526 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 RCV001449952 SCV001653474 likely benign Miyoshi muscular dystrophy 1 2021-05-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897632 SCV004716123 likely benign DYSF-related disorder 2020-10-26 criteria provided, single submitter 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).
Natera, Inc. RCV000665200 SCV002079788 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-23 no assertion criteria provided clinical testing

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