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NM_001966.4(EHHADH):c.1897C>T (p.Arg633Cys) AND EHHADH-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 18, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004745500.1

Allele description [Variation Report for NM_001966.4(EHHADH):c.1897C>T (p.Arg633Cys)]

NM_001966.4(EHHADH):c.1897C>T (p.Arg633Cys)

Gene:
EHHADH:enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q27.2
Genomic location:
Preferred name:
NM_001966.4(EHHADH):c.1897C>T (p.Arg633Cys)
HGVS:
  • NC_000003.12:g.185192501G>A
  • NG_015999.1:g.66598C>T
  • NM_001166415.2:c.1609C>T
  • NM_001966.3:c.1897C>T
  • NM_001966.4:c.1897C>TMANE SELECT
  • NP_001159887.1:p.Arg537Cys
  • NP_001957.2:p.Arg633Cys
  • NC_000003.11:g.184910289G>A
Protein change:
R537C
Links:
dbSNP: rs201374672
NCBI 1000 Genomes Browser:
rs201374672
Molecular consequence:
  • NM_001166415.2:c.1609C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001966.4:c.1897C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
EHHADH-related disorder
Synonyms:
EHHADH-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005352872PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Oct 18, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005352872.1

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

Description

The EHHADH c.1897C>T variant is predicted to result in the amino acid substitution p.Arg633Cys. To our knowledge, this variant has not been reported in association with Fanconi renotubular syndrome. This variant was reported with de novo occurrence in an individual with autism (Zhou et al 2022. PubMed ID: 35982159, supplementary data 1); however, this gene-disease association is not otherwise well supported. This variant is reported in 0.030% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-184910289-G-A), which may be too common to be a primary cause of disease. Although we suspect this variant may be benign, at this time, the clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 13, 2024