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NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Dec 28, 2020)
Last evaluated:
Dec 23, 2019
Accession:
VCV000203838.4
Variation ID:
203838
Description:
single nucleotide variant
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NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)

Allele ID
199985
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.2
Genomic location
2: 149582208 (GRCh38) GRCh38 UCSC
2: 150438722 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.150438722C>A
NC_000002.12:g.149582208C>A
NM_015702.3:c.73G>T MANE Select NP_056517.1:p.Val25Phe missense
NG_009189.1:g.10609G>T
Protein change
V25F
Other names
-
Canonical SPDI
NC_000002.12:149582207:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Dec 23, 2019 RCV001035983.3
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001128927.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MMADHC - - GRCh38
GRCh37
148 174

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 23, 2019)
criteria provided, single submitter
Method: clinical testing
Methylmalonic acidemia with homocystinuria cblD
Allele origin: germline
Invitae
Accession: SCV001199323.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces valine with phenylalanine at codon 25 of the MMADHC protein (p.Val25Phe). The valine residue is highly conserved and there is a … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Methylmalonic acidemia with homocystinuria cblD
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001288422.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Disorders of Intracellular Cobalamin Metabolism
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001288423.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Methylmalonic aciduria with homocystinuria cblD type
Allele origin: germline
Natera, Inc.
Accession: SCV001455042.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Aug 27, 2021