ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5171G>C (p.Cys1724Ser)

dbSNP: rs777984362
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV002474282 SCV002770755 uncertain significance not provided 2022-08-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002474282 SCV003830892 uncertain significance not provided 2023-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV005333250 SCV005999126 uncertain significance Inborn genetic diseases 2025-02-07 criteria provided, single submitter clinical testing The c.5054G>C (p.C1685S) alteration is located in exon 45 (coding exon 45) of the DYSF gene. This alteration results from a G to C substitution at nucleotide position 5054, causing the cysteine (C) at amino acid position 1685 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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