ClinVar Miner

Submissions for variant NM_003494.4(DYSF):c.17T>A (p.Ile6Asn)

dbSNP: rs1354334539
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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) RCV000598153 SCV000708699 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing
Invitae RCV001041107 SCV001204703 uncertain significance Qualitative or quantitative defects of dysferlin 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 6 of the DYSF protein (p.Ile6Asn). This variant is not present in population databases (gnomAD no frequency). 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: 502095). 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 Omics RCV000598153 SCV003831302 uncertain significance not provided 2019-06-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273958 SCV001457592 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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