ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2570C>T (p.Pro857Leu)

gnomAD frequency: 0.00001  dbSNP: rs759412160
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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) RCV000350288 SCV000343237 uncertain significance not provided 2016-07-18 criteria provided, single submitter clinical testing
Invitae RCV001241954 SCV001415010 uncertain significance Qualitative or quantitative defects of dysferlin 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 839 of the DYSF protein (p.Pro839Leu). This variant is present in population databases (rs759412160, gnomAD 0.006%). 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: 288976). 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. 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 RCV000350288 SCV003830911 uncertain significance not provided 2019-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021267 SCV004861667 uncertain significance Inborn genetic diseases 2023-12-21 criteria provided, single submitter clinical testing The c.2516C>T (p.P839L) alteration is located in exon 25 (coding exon 25) of the DYSF gene. This alteration results from a C to T substitution at nucleotide position 2516, causing the proline (P) at amino acid position 839 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828261 SCV002079860 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-05-21 no assertion criteria provided clinical testing

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