ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly)

gnomAD frequency: 0.00775  dbSNP: rs61738567
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116930 SCV000523004 benign not specified 2016-05-04 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000549464 SCV000649693 benign Qualitative or quantitative defects of dysferlin 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584606 SCV005074647 benign not provided 2024-06-01 criteria provided, single submitter clinical testing DYSF: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV004584606 SCV005240222 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116930 SCV000151031 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV001271540 SCV001452773 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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