ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.785G>A (p.Arg262His)

gnomAD frequency: 0.00002  dbSNP: rs764849844
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247794 SCV001421237 uncertain significance Qualitative or quantitative defects of dysferlin 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 230 of the DYSF protein (p.Arg230His). This variant is present in population databases (rs764849844, gnomAD 0.005%). 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: 971899). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Athena Diagnostics Inc RCV001664781 SCV001879885 uncertain significance not provided 2020-10-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491844 SCV002800737 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-10-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835309 SCV002079766 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-04-23 no assertion criteria provided clinical testing

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