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NM_001005337.3(PKP1):c.883C>G (p.Leu295Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 10, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002928581.2

Allele description [Variation Report for NM_001005337.3(PKP1):c.883C>G (p.Leu295Val)]

NM_001005337.3(PKP1):c.883C>G (p.Leu295Val)

Gene:
PKP1:plakophilin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_001005337.3(PKP1):c.883C>G (p.Leu295Val)
HGVS:
  • NC_000001.11:g.201317608C>G
  • NG_023337.1:g.39157C>G
  • NG_023337.2:g.39104C>G
  • NM_000299.4:c.883C>G
  • NM_001005337.3:c.883C>GMANE SELECT
  • NP_000290.2:p.Leu295Val
  • NP_001005337.1:p.Leu295Val
  • NC_000001.10:g.201286736C>G
  • NM_001005337.2:c.883C>G
Protein change:
L295V
Molecular consequence:
  • NM_000299.4:c.883C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005337.3:c.883C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003699112Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 10, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003699112.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.883C>G (p.L295V) alteration is located in exon 5 (coding exon 5) of the PKP1 gene. This alteration results from a C to G substitution at nucleotide position 883, causing the leucine (L) at amino acid position 295 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024