NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 29, 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_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr)]

NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr)

LRPPRC:leucine rich pentatricopeptide repeat containing [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr)
  • NC_000002.12:g.43973803T>G
  • NG_008247.1:g.27203A>C
  • NM_133259.4:c.1253A>CMANE SELECT
  • NP_573566.2:p.Asn418Thr
  • NC_000002.11:g.44200942T>G
  • NM_133259.3:c.1253A>C
Protein change:
dbSNP: rs373908553
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_133259.4:c.1253A>C - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000618079GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 29, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000618079.2

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


The N418T variant in the LRPPRC gene has been reported previously in an individual with a lethal infantile mitochondrial disorder who was heterozygous for N418T and another LRPPRC variant, however segregation information was not provided (Kohda et al., 2016). The N418T variant is observed in 6/9836 (0.06%) alleles from individuals of Ashkenazi Jewish background, in the gnomAD dataset (Lek et al., 2016). The N418T variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret N418T as a variant of uncertain significance.

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

Last Updated: Oct 8, 2021

Support Center