ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5085C>T (p.Asp1695=)

gnomAD frequency: 0.00003  dbSNP: rs375326769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877608 SCV001020371 likely benign Qualitative or quantitative defects of dysferlin 2023-12-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001553579 SCV001774479 likely benign not specified 2021-07-09 criteria provided, single submitter clinical testing Variant summary: DYSF c.4968C>T alters a non-conserved nucleotide resulting in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.3e-05 in 396220 control chromosomes. This frequency is not higher than the maximum expected for a pathogenic variant in DYSF causing Limb-Girdle Muscular Dystrophy, Autosomal Recessive (4.3e-05 vs 0.0031), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.4968C>T in individuals affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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