ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.7231C>T (p.Arg2411Cys)

gnomAD frequency: 0.00003  dbSNP: rs375202089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000466945 SCV000544708 uncertain significance Spastic paraplegia 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2411 of the ZFYVE26 protein (p.Arg2411Cys). This variant is present in population databases (rs375202089, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with ZFYVE26-related conditions. ClinVar contains an entry for this variant (Variation ID: 406177). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626929 SCV000747632 uncertain significance Retinal dystrophy 2017-01-01 criteria provided, single submitter clinical testing
GeneDx RCV003235217 SCV003933290 uncertain significance not provided 2022-12-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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