NM_001698.3(AUH):c.304T>A (p.Ser102Thr) AND 3-Methylglutaconic aciduria type 1

Clinical significance:Uncertain significance (Last evaluated: Sep 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001698.3(AUH):c.304T>A (p.Ser102Thr)]

NM_001698.3(AUH):c.304T>A (p.Ser102Thr)

AUH:AU RNA binding methylglutaconyl-CoA hydratase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001698.3(AUH):c.304T>A (p.Ser102Thr)
  • NC_000009.12:g.91356114A>T
  • NG_008017.1:g.10811T>A
  • NM_001306190.2:c.304T>A
  • NM_001351431.2:c.-24T>A
  • NM_001351432.2:c.-24T>A
  • NM_001351433.2:c.-24T>A
  • NM_001698.2:c.304T>A
  • NM_001698.3:c.304T>AMANE SELECT
  • NP_001293119.1:p.Ser102Thr
  • NP_001689.1:p.Ser102Thr
  • NP_001689.1:p.Ser102Thr
  • LRG_449t1:c.304T>A
  • LRG_449:g.10811T>A
  • LRG_449p1:p.Ser102Thr
  • NC_000009.11:g.94118396A>T
Protein change:
dbSNP: rs1554721818
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001351431.2:c.-24T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351432.2:c.-24T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351433.2:c.-24T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001306190.2:c.304T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001698.2:c.304T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001698.3:c.304T>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)
SCV000756676Invitaecriteria provided, single submitter
Uncertain significance
(Sep 28, 2017)
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



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 Invitae, SCV000756676.1

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


This sequence change replaces serine with threonine at codon 102 of the AUH protein (p.Ser102Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AUH-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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: Oct 25, 2021

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