ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3446C>A (p.Ser1149Tyr)

dbSNP: rs959125009
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001344867 SCV001538950 likely benign Qualitative or quantitative defects of dysferlin 2024-07-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145594 SCV003831257 uncertain significance not provided 2020-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004036438 SCV004861676 uncertain significance Inborn genetic diseases 2023-11-20 criteria provided, single submitter clinical testing The c.3392C>A (p.S1131Y) alteration is located in exon 31 (coding exon 31) of the DYSF gene. This alteration results from a C to A substitution at nucleotide position 3392, causing the serine (S) at amino acid position 1131 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001831109 SCV002082276 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-03-10 no assertion criteria provided clinical testing

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