ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4455C>G (p.Ile1485Met)

gnomAD frequency: 0.00001  dbSNP: rs758226677
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001043044 SCV001206755 likely benign Qualitative or quantitative defects of dysferlin 2024-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002551526 SCV003569868 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.4401C>G (p.I1467M) alteration is located in exon 40 (coding exon 40) of the DYSF gene. This alteration results from a C to G substitution at nucleotide position 4401, causing the isoleucine (I) at amino acid position 1467 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277417 SCV001464366 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-08-30 no assertion criteria provided clinical testing

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