ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His)

gnomAD frequency: 0.00594  dbSNP: rs59915619
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116927 SCV000151023 benign not specified 2021-02-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000116927 SCV000309670 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000116927 SCV000525220 benign not specified 2016-09-22 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.
Invitae RCV001086595 SCV000649657 benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000532523 SCV001143818 benign not provided 2018-11-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001086595 SCV001301078 uncertain significance Qualitative or quantitative defects of dysferlin 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001826784 SCV002082272 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-12-04 no assertion criteria provided clinical testing

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