ClinVar Miner

Submissions for variant NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu)

gnomAD frequency: 0.00013  dbSNP: rs144931729
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706854 SCV000835928 likely benign Qualitative or quantitative defects of dysferlin 2024-01-11 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711549 SCV000841928 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534470 SCV003678937 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.1508C>T (p.S503L) alteration is located in exon 17 (coding exon 17) of the DYSF gene. This alteration results from a C to T substitution at nucleotide position 1508, causing the serine (S) at amino acid position 503 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001271777 SCV001453217 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-03-10 no assertion criteria provided clinical testing

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