ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)

gnomAD frequency: 0.00580  dbSNP: rs150724610
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080227 SCV000342092 benign not specified 2016-05-20 criteria provided, single submitter clinical testing
GeneDx RCV000080227 SCV000512911 benign not specified 2016-06-16 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513692 SCV000610420 benign not provided 2017-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083703 SCV000649596 benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
Counsyl RCV000670929 SCV000795850 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000513692 SCV000841923 benign not provided 2017-09-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513692 SCV001152332 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing DYSF: BP4, BS2
Illumina Laboratory Services, Illumina RCV001083703 SCV001297528 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. RCV000670929 SCV001463251 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-12 no assertion criteria provided clinical testing

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