NM_000925.4(PDHB):c.1002T>C (p.Tyr334=) AND Pyruvate dehydrogenase complex deficiency

Clinical significance:Uncertain significance (Last evaluated: Oct 15, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001280182.1

Allele description [Variation Report for NM_000925.4(PDHB):c.1002T>C (p.Tyr334=)]

NM_000925.4(PDHB):c.1002T>C (p.Tyr334=)

Gene:
PDHB:pyruvate dehydrogenase E1 subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p14.3
Genomic location:
Preferred name:
NM_000925.4(PDHB):c.1002T>C (p.Tyr334=)
HGVS:
  • NC_000003.12:g.58428112A>G
  • NG_016860.1:g.10741T>C
  • NM_000925.4:c.1002T>CMANE SELECT
  • NM_001173468.2:c.948T>C
  • NM_001315536.2:c.948T>C
  • NP_000916.2:p.Tyr334=
  • NP_001166939.1:p.Tyr316=
  • NP_001302465.1:p.Tyr316=
  • NC_000003.11:g.58413839A>G
  • NR_033384.2:n.1108T>C
Molecular consequence:
  • NR_033384.2:n.1108T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000925.4:c.1002T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001173468.2:c.948T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001315536.2:c.948T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Pyruvate dehydrogenase complex deficiency (PDHC)
Synonyms:
PDH DEFICIENCY; Pyruvate Dehydrogenase Complex Deficiency Disease; Pyruvate decarboxylase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019169; MedGen: C0034345; Orphanet: 765; Orphanet: 79243; OMIM: PS312170

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001467342Natera, Inc.no assertion criteria providedUncertain significance
(Oct 15, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001467342.1

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

Last Updated: Oct 7, 2021

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