ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr)

gnomAD frequency: 0.00008  dbSNP: rs143632564
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000286988 SCV000431765 uncertain significance Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323409 SCV000431766 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001240549 SCV001413506 uncertain significance Qualitative or quantitative defects of dysferlin 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 846 of the DYSF protein (p.Ala846Thr). This variant is present in population databases (rs143632564, gnomAD 0.008%). 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: 336960). 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 RCV003144230 SCV003830926 uncertain significance not provided 2020-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258773 SCV003970129 uncertain significance Inborn genetic diseases 2023-04-05 criteria provided, single submitter clinical testing The c.2536G>A (p.A846T) alteration is located in exon 25 (coding exon 25) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 2536, causing the alanine (A) at amino acid position 846 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828332 SCV002079862 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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