ClinVar Miner

Submissions for variant NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)

gnomAD frequency: 0.00008  dbSNP: rs267606941
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000018094 SCV001142168 uncertain significance Spinocerebellar ataxia type 23 2023-09-29 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268483 SCV001447446 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001268483 SCV002064033 likely pathogenic not provided 2021-10-01 criteria provided, single submitter clinical testing
GeneDx RCV001268483 SCV002584237 uncertain significance not provided 2023-09-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 21035104)
Invitae RCV001268483 SCV003262120 pathogenic not provided 2022-07-30 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of spinocerebellar ataxia (PMID: 21035104, 22287014, 23355175). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs267606941, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 138 of the PDYN protein (p.Arg138Ser). ClinVar contains an entry for this variant (Variation ID: 18458). For these reasons, this variant has been classified as Pathogenic. Studies have shown that this missense change alters PDYN gene expression (PMID: 21035104). 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: "Benign"; Align-GVGD: "Class C0").
Human Genetics Bochum, Ruhr University Bochum RCV000018094 SCV004042773 likely pathogenic Spinocerebellar ataxia type 23 2023-05-23 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PS4, PS3_MOD, PP1
OMIM RCV000018094 SCV000038373 pathogenic Spinocerebellar ataxia type 23 2010-11-12 no assertion criteria provided literature only

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