ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)

gnomAD frequency: 0.00001  dbSNP: rs746663568
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673203 SCV000798379 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2018-03-09 criteria provided, single submitter clinical testing
Invitae RCV001035887 SCV001199227 likely pathogenic Qualitative or quantitative defects of dysferlin 2023-10-13 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 2066 of the DYSF protein (p.Ala2066Thr). This variant is present in population databases (rs746663568, gnomAD 0.002%). This missense change has been observed in individual(s) with dysferlinopathy and/or limb girdle muscular dystrophy (PMID: 21522182, 27066573, 32400077, 32528171, 34559919; Invitae). This variant is also known as c.6313G>A, p.A2105T. ClinVar contains an entry for this variant (Variation ID: 557110). 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Revvity Omics, Revvity RCV003144473 SCV003831296 uncertain significance not provided 2019-03-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465524 SCV004196533 pathogenic Miyoshi muscular dystrophy 1 2023-05-10 criteria provided, single submitter clinical testing

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