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NM_000254.3(MTR):c.1780A>G (p.Met594Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 9, 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:
RCV004507246.1

Allele description [Variation Report for NM_000254.3(MTR):c.1780A>G (p.Met594Val)]

NM_000254.3(MTR):c.1780A>G (p.Met594Val)

Gene:
MTR:5-methyltetrahydrofolate-homocysteine methyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_000254.3(MTR):c.1780A>G (p.Met594Val)
HGVS:
  • NC_000001.11:g.236852605A>G
  • NG_008959.1:g.62325A>G
  • NM_000254.3:c.1780A>GMANE SELECT
  • NM_001291939.1:c.1780A>G
  • NM_001291940.2:c.559A>G
  • NM_001410942.1:c.1780A>G
  • NP_000245.2:p.Met594Val
  • NP_001278868.1:p.Met594Val
  • NP_001278869.1:p.Met187Val
  • NP_001397871.1:p.Met594Val
  • NC_000001.10:g.237015905A>G
  • NM_000254.2:c.1780A>G
Protein change:
M187V
Molecular consequence:
  • NM_000254.3:c.1780A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291939.1:c.1780A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291940.2:c.559A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410942.1:c.1780A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005009578Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 9, 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, SCV005009578.1

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

Description

The c.1780A>G (p.M594V) alteration is located in exon 17 (coding exon 17) of the MTR gene. This alteration results from a A to G substitution at nucleotide position 1780, causing the methionine (M) at amino acid position 594 to be replaced by a valine (V). 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: May 7, 2024