ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu)

gnomAD frequency: 0.00001  dbSNP: rs746610724
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000264809 SCV000337754 uncertain significance not provided 2015-12-08 criteria provided, single submitter clinical testing
Invitae RCV001241483 SCV001414505 likely benign Qualitative or quantitative defects of dysferlin 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521928 SCV003682866 uncertain significance Inborn genetic diseases 2022-01-19 criteria provided, single submitter clinical testing The c.1133G>A (p.G378E) alteration is located in exon 12 (coding exon 12) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 1133, causing the glycine (G) at amino acid position 378 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000264809 SCV003829630 uncertain significance not provided 2023-03-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828209 SCV002079790 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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