ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu)

gnomAD frequency: 0.00001  dbSNP: rs199827126
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002480888 SCV002786845 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-09-30 criteria provided, single submitter clinical testing
Invitae RCV002542870 SCV003479767 uncertain significance Qualitative or quantitative defects of dysferlin 2022-02-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 1707 of the DYSF protein (p.Gln1707Glu). This variant is present in population databases (rs199827126, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 989559). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DYSF protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001277421 SCV001464370 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-08-14 no assertion criteria provided clinical testing

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