ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.988G>A (p.Ala330Thr)

dbSNP: rs757132796
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197119 SCV001367755 uncertain significance Infantile convulsions and choreoathetosis 2018-12-13 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001371068 SCV001567620 uncertain significance Episodic kinesigenic dyskinesia 2022-06-27 criteria provided, single submitter clinical testing 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. 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"). ClinVar contains an entry for this variant (Variation ID: 931004). This missense change has been observed in individual(s) with clinical features of PRRT2-related conditions (PMID: 33126486). 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 sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 330 of the PRRT2 protein (p.Ala330Thr).
Ambry Genetics RCV004960519 SCV005479517 uncertain significance Inborn genetic diseases 2024-08-19 criteria provided, single submitter clinical testing The c.988G>A (p.A330T) alteration is located in exon 3 (coding exon 2) of the PRRT2 gene. This alteration results from a G to A substitution at nucleotide position 988, causing the alanine (A) at amino acid position 330 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005021491 SCV005646547 uncertain significance Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis 2024-04-04 criteria provided, single submitter clinical testing

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