ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser)

gnomAD frequency: 0.00002  dbSNP: rs1429464723
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218466 SCV001390348 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-03-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 442 of the FKTN protein (p.Asn442Ser). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of FKTN-related conditions (PMID: 28785732, 34008892). ClinVar contains an entry for this variant (Variation ID: 947398). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729816 SCV001976961 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2021-10-01 criteria provided, single submitter clinical testing PM2, PM3, PP3, PP5
Baylor Genetics RCV003473771 SCV004199730 likely pathogenic Dilated cardiomyopathy 1X 2023-07-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001218466 SCV002081988 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-01-06 no assertion criteria provided clinical testing

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