NM_001698.2(AUH):c.730G>A (p.Asp244Asn) AND 3-Methylglutaconic aciduria type 1

Clinical significance:Uncertain significance (Last evaluated: Aug 7, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_001698.2(AUH):c.730G>A (p.Asp244Asn)]

NM_001698.2(AUH):c.730G>A (p.Asp244Asn)

AUH:AU RNA binding methylglutaconyl-CoA hydratase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001698.2(AUH):c.730G>A (p.Asp244Asn)
Other names:
  • NC_000009.12:g.91220918C>T
  • NG_008017.1:g.146007G>A
  • NM_001306190.1:c.643G>A
  • NM_001351431.1:c.403G>A
  • NM_001351432.1:c.403G>A
  • NM_001351433.1:c.403G>A
  • NM_001698.2:c.730G>A
  • NP_001293119.1:p.Asp215Asn
  • NP_001338360.1:p.Asp135Asn
  • NP_001338361.1:p.Asp135Asn
  • NP_001338362.1:p.Asp135Asn
  • NP_001689.1:p.Asp244Asn
  • LRG_449t1:c.730G>A
  • LRG_449:g.146007G>A
  • LRG_449p1:p.Asp244Asn
  • NC_000009.11:g.93983200C>T
Protein change:
dbSNP: rs202182817
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001306190.1:c.643G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351431.1:c.403G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351432.1:c.403G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351433.1:c.403G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001698.2:c.730G>A - missense variant - [Sequence Ontology: SO:0001583]


3-Methylglutaconic aciduria type 1 (MGCA1)
3 methylglutaconic aciduria type I; MGA type I; 3 alpha methylglutaconic aciduria type I; See all synonyms [MedGen]
MONDO: MONDO:0009610; MedGen: C0342727; Orphanet: 67046; OMIM: 250950

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000897532Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000940696Invitaecriteria provided, single submitter
Uncertain significance
(Aug 7, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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



Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000897532.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV000940696.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)


This sequence change replaces aspartic acid with asparagine at codon 244 of the AUH protein (p.Asp244Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs202182817, ExAC 0.1%). This variant has not been reported in the literature in individuals with AUH-related disease. ClinVar contains an entry for this variant (Variation ID: 214146). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Apr 12, 2021

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