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

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 5, 2020
Accession:
VCV000931004.3
Variation ID:
931004
Description:
single nucleotide variant
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NM_145239.3(PRRT2):c.988G>A (p.Ala330Thr)

Allele ID
919640
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p11.2
Genomic location
16: 29814441 (GRCh38) GRCh38 UCSC
16: 29825762 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.29814441G>A
NC_000016.9:g.29825762G>A
NG_032039.1:g.7354G>A
... more HGVS
Protein change
A330T
Other names
-
Canonical SPDI
NC_000016.10:29814440:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 13, 2018 RCV001197119.1
Uncertain significance 1 criteria provided, single submitter Aug 5, 2020 RCV001371068.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PRRT2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
337 589

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 13, 2018)
criteria provided, single submitter
Method: clinical testing
Infantile convulsions and choreoathetosis
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001367755.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
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 … (more)
Uncertain significance
(Aug 05, 2020)
criteria provided, single submitter
Method: clinical testing
Paroxysmal kinesigenic dyskinesia
Allele origin: germline
Invitae
Accession: SCV001567620.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces alanine with threonine at codon 330 of the PRRT2 protein (p.Ala330Thr). The alanine residue is highly conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021