ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.592A>C (p.Thr198Pro)

gnomAD frequency: 0.00006  dbSNP: rs142265349
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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 RCV001243658 SCV001416830 likely benign Qualitative or quantitative defects of dysferlin 2025-01-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145476 SCV003831246 uncertain significance not provided 2021-04-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978193 SCV005571583 uncertain significance Inborn genetic diseases 2024-10-24 criteria provided, single submitter clinical testing The c.496A>C (p.T166P) alteration is located in exon 6 (coding exon 6) of the DYSF gene. This alteration results from a A to C substitution at nucleotide position 496, causing the threonine (T) at amino acid position 166 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835179 SCV002079756 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-24 no assertion criteria provided clinical testing

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