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NM_001082971.2(DDC):c.1358G>A (p.Arg453His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 3, 2016
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:
RCV000483851.1

Allele description [Variation Report for NM_001082971.2(DDC):c.1358G>A (p.Arg453His)]

NM_001082971.2(DDC):c.1358G>A (p.Arg453His)

Gene:
DDC:dopa decarboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p12.2
Genomic location:
Preferred name:
NM_001082971.2(DDC):c.1358G>A (p.Arg453His)
HGVS:
  • NC_000007.14:g.50463316C>T
  • NG_008742.1:g.107141G>A
  • NM_000790.4:c.1358G>A
  • NM_001082971.2:c.1358G>AMANE SELECT
  • NM_001242886.2:c.1244G>A
  • NM_001242887.2:c.1214G>A
  • NM_001242888.2:c.1124G>A
  • NM_001242889.2:c.1079G>A
  • NP_000781.2:p.Arg453His
  • NP_001076440.2:p.Arg453His
  • NP_001229815.2:p.Arg415His
  • NP_001229816.2:p.Arg405His
  • NP_001229817.2:p.Arg375His
  • NP_001229818.2:p.Arg360His
  • NC_000007.13:g.50531014C>T
  • NM_000790.3:c.1358G>A
Protein change:
R360H
Links:
dbSNP: rs770717871
NCBI 1000 Genomes Browser:
rs770717871
Molecular consequence:
  • NM_000790.4:c.1358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001082971.2:c.1358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242886.2:c.1244G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242887.2:c.1214G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242888.2:c.1124G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242889.2:c.1079G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000569490GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 3, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000569490.4

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

Description

The R453H variant in the DDC gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R453H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R453H as a variant of uncertain significance.

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

Last Updated: Sep 29, 2024