ClinVar Miner

Submissions for variant NM_153033.5(KCTD7):c.533C>T (p.Ala178Val)

gnomAD frequency: 0.00001  dbSNP: rs368001837
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
IRCCS Fondazione Stella Maris, University of Pisa RCV000677304 SCV000803341 likely pathogenic Progressive myoclonic epilepsy type 3 2017-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000677304 SCV001226510 uncertain significance Progressive myoclonic epilepsy type 3 2022-03-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 178 of the KCTD7 protein (p.Ala178Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individuals with clinical features of progressive myoclonic epilepsy (PMID: 30295347, 30500434, 31216804; Invitae). ClinVar contains an entry for this variant (Variation ID: 559579). 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 C55"). 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.
OMIM RCV000677304 SCV004697947 pathogenic Progressive myoclonic epilepsy type 3 2024-02-29 no assertion criteria provided literature only

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