ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met)

gnomAD frequency: 0.00012  dbSNP: rs376358025
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731709 SCV000859557 uncertain significance not provided 2018-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000802202 SCV000942021 benign Qualitative or quantitative defects of dysferlin 2024-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535234 SCV003541861 uncertain significance Inborn genetic diseases 2022-12-28 criteria provided, single submitter clinical testing The c.1310C>T (p.T437M) alteration is located in exon 14 (coding exon 14) of the DYSF gene. This alteration results from a C to T substitution at nucleotide position 1310, causing the threonine (T) at amino acid position 437 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830617 SCV002079796 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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