ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1136G>A (p.Gly379Glu)

gnomAD frequency: 0.00004  dbSNP: rs562361258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648016 SCV000769826 uncertain significance Qualitative or quantitative defects of dysferlin 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 347 of the DYSF protein (p.Gly347Glu). This variant is present in population databases (rs562361258, gnomAD 0.01%). 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: 538644). 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 expected to disrupt DYSF protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. RCV001835048 SCV002079785 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-08-19 no assertion criteria provided clinical testing

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