ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4191C>A (p.Asn1397Lys)

gnomAD frequency: 0.00001  dbSNP: rs536906283
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593511 SCV000708258 uncertain significance not provided 2017-05-05 criteria provided, single submitter clinical testing
Invitae RCV002532620 SCV003297139 uncertain significance Qualitative or quantitative defects of dysferlin 2022-02-21 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1379 of the DYSF protein (p.Asn1379Lys). This variant is present in population databases (rs536906283, gnomAD 0.05%). 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: 501769). 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.
Ambry Genetics RCV002532619 SCV003616648 uncertain significance Inborn genetic diseases 2022-05-16 criteria provided, single submitter clinical testing The c.4137C>A (p.N1379K) alteration is located in exon 38 (coding exon 38) of the DYSF gene. This alteration results from a C to A substitution at nucleotide position 4137, causing the asparagine (N) at amino acid position 1379 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000593511 SCV004234429 uncertain significance not provided 2023-02-27 criteria provided, single submitter clinical testing

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