ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)

gnomAD frequency: 0.00002  dbSNP: rs957111625
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695255 SCV000823742 likely benign Qualitative or quantitative defects of dysferlin 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493198 SCV002775172 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163191 SCV003868532 uncertain significance Inborn genetic diseases 2023-02-01 criteria provided, single submitter clinical testing The c.5150G>A (p.R1717Q) alteration is located in exon 46 (coding exon 46) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 5150, causing the arginine (R) at amino acid position 1717 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274106 SCV001457850 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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