ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2810G>A (p.Arg937His)

gnomAD frequency: 0.00002  dbSNP: rs765601966
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000277280 SCV000344647 uncertain significance not provided 2016-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001038058 SCV001201501 uncertain significance Qualitative or quantitative defects of dysferlin 2022-07-06 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 919 of the DYSF protein (p.Arg919His). This variant is present in population databases (rs765601966, gnomAD 0.04%). 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: 290143). 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.
Revvity Omics, Revvity RCV000277280 SCV003829661 uncertain significance not provided 2019-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975404 SCV005571600 uncertain significance Inborn genetic diseases 2024-08-04 criteria provided, single submitter clinical testing The c.2756G>A (p.R919H) alteration is located in exon 26 (coding exon 26) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 2756, causing the arginine (R) at amino acid position 919 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833400 SCV002082238 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-11-11 no assertion criteria provided clinical testing

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