ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu)

gnomAD frequency: 0.00009  dbSNP: rs370866476
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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) RCV000178627 SCV000230742 uncertain significance not provided 2017-01-11 criteria provided, single submitter clinical testing
Invitae RCV000813699 SCV000954068 likely benign Qualitative or quantitative defects of dysferlin 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165373 SCV003905679 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.5272C>G (p.Q1758E) alteration is located in exon 47 (coding exon 47) of the DYSF gene. This alteration results from a C to G substitution at nucleotide position 5272, causing the glutamine (Q) at amino acid position 1758 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001826908 SCV002080320 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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