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NM_014585.6(SLC40A1):c.652G>A (p.Val218Met) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 7, 2023
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:
RCV003260985.2

Allele description [Variation Report for NM_014585.6(SLC40A1):c.652G>A (p.Val218Met)]

NM_014585.6(SLC40A1):c.652G>A (p.Val218Met)

Gene:
SLC40A1:solute carrier family 40 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_014585.6(SLC40A1):c.652G>A (p.Val218Met)
HGVS:
  • NC_000002.12:g.189565462C>T
  • NG_009027.1:g.20350G>A
  • NM_014585.6:c.652G>AMANE SELECT
  • NP_055400.1:p.Val218Met
  • NP_055400.1:p.Val218Met
  • LRG_837t1:c.652G>A
  • LRG_837:g.20350G>A
  • LRG_837p1:p.Val218Met
  • NC_000002.11:g.190430188C>T
  • NM_014585.5:c.652G>A
Protein change:
V218M
Molecular consequence:
  • NM_014585.6:c.652G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003975379Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 7, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003975379.2

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

Description

The c.652G>A (p.V218M) alteration is located in exon 6 (coding exon 6) of the SLC40A1 gene. This alteration results from a G to A substitution at nucleotide position 652, causing the valine (V) at amino acid position 218 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024