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NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 10, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003558832.3

Allele description [Variation Report for NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln)]

NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln)

Gene:
SLC25A38:solute carrier family 25 member 38 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.1
Genomic location:
Preferred name:
NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln)
HGVS:
  • NC_000003.12:g.39391956G>A
  • NG_016931.1:g.13633G>A
  • NM_001354798.2:c.560G>A
  • NM_017875.4:c.560G>AMANE SELECT
  • NP_001341727.1:p.Arg187Gln
  • NP_060345.2:p.Arg187Gln
  • LRG_1133t1:c.560G>A
  • LRG_1133:g.13633G>A
  • LRG_1133p1:p.Arg187Gln
  • NC_000003.11:g.39433447G>A
  • NM_017875.3:c.560G>A
Protein change:
R187Q
Links:
dbSNP: rs121918331
NCBI 1000 Genomes Browser:
rs121918331
Molecular consequence:
  • NM_001354798.2:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017875.4:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004292678Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 10, 2024) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.

Kannengiesser C, Sanchez M, Sweeney M, Hetet G, Kerr B, Moran E, Fuster Soler JL, Maloum K, Matthes T, Oudot C, Lascaux A, Pondarré C, Sevilla Navarro J, Vidyatilake S, Beaumont C, Grandchamp B, May A.

Haematologica. 2011 Jun;96(6):808-13. doi: 10.3324/haematol.2010.039164. Epub 2011 Mar 10.

PubMed [citation]
PMID:
21393332
PMCID:
PMC3105641

Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.

An W, Zhang J, Chang L, Zhang Y, Wan Y, Ren Y, Niu D, Wu J, Zhu X, Guo Y.

J Hematol Oncol. 2015 May 20;8:55. doi: 10.1186/s13045-015-0154-0.

PubMed [citation]
PMID:
25985931
PMCID:
PMC4490691
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004292678.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 187 of the SLC25A38 protein (p.Arg187Gln). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with congenital sideroblastic anemia (PMID: 21393332, 25985931, 31642437, 32605921, 32790119, 34298585). ClinVar contains an entry for this variant (Variation ID: 1172486). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC25A38 protein function with a positive predictive value of 80%. 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.

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

Last Updated: Mar 11, 2025