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NM_001082971.2(DDC):c.1358G>A (p.Arg453His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 25, 2022
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:
RCV002526580.2

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)

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
SCV003621531Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 25, 2022) 		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, SCV003621531.2

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

Description

The c.1358G>A (p.R453H) alteration is located in exon 14 (coding exon 13) of the DDC gene. This alteration results from a G to A substitution at nucleotide position 1358, causing the arginine (R) at amino acid position 453 to be replaced by a histidine (H). 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: Sep 29, 2024