NM_001035.3(RYR2):c.14703G>C (p.Val4901=) AND Catecholaminergic polymorphic ventricular tachycardia

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Nov 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000378694.5

Allele description [Variation Report for NM_001035.3(RYR2):c.14703G>C (p.Val4901=)]

NM_001035.3(RYR2):c.14703G>C (p.Val4901=)

Gene:
RYR2:ryanodine receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
HGVS:
  • NC_000001.11:g.237830577G>C
  • NG_008799.2:g.793176G>C
  • NG_008799.3:g.793394G>C
  • NM_001035.3:c.14703G>CMANE SELECT
  • NP_001026.2:p.Val4901=
  • LRG_402t1:c.14703G>C
  • LRG_402:g.793394G>C
  • LRG_402p1:p.Val4901=
  • NC_000001.10:g.237993877G>C
  • NM_001035.2:c.14703G>C
  • NP_001026.2:p.(=)
Links:
dbSNP: rs201371633
NCBI 1000 Genomes Browser:
rs201371633
Molecular consequence:
  • NM_001035.3:c.14703G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Catecholaminergic polymorphic ventricular tachycardia (CPVT1)
Synonyms:
Familial polymorphic ventricular tachycardia; Catecholamine-induced polymorphic ventricular tachycardia; Polymorphic catecholergic ventricular tachycardia
Identifiers:
MONDO: MONDO:0017990; MedGen: C1631597; Orphanet: 3286; OMIM: PS604772

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000356495Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000760732Invitaecriteria provided, single submitter
Likely benign
(Nov 3, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000356495.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV000760732.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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