ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala)

gnomAD frequency: 0.00013  dbSNP: rs1358370392
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551403 SCV000649650 likely benign Qualitative or quantitative defects of dysferlin 2024-12-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144341 SCV003831325 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003144341 SCV004224925 uncertain significance not provided 2022-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975662 SCV005571584 uncertain significance Inborn genetic diseases 2024-11-28 criteria provided, single submitter clinical testing The c.3085C>G (p.P1029A) alteration is located in exon 29 (coding exon 29) of the DYSF gene. This alteration results from a C to G substitution at nucleotide position 3085, causing the proline (P) at amino acid position 1029 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001272824 SCV001455214 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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