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NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(4);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Jul 4, 2021)
Last evaluated:
Mar 1, 2021
Accession:
VCV000203837.14
Variation ID:
203837
Description:
single nucleotide variant
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NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)

Allele ID
199983
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.2
Genomic location
2: 149571135 (GRCh38) GRCh38 UCSC
2: 150427649 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.150427649G>C
NC_000002.12:g.149571135G>C
NG_009189.1:g.21682C>G
NM_015702.3:c.646C>G MANE Select NP_056517.1:p.Arg216Gly missense
Protein change
R216G
Other names
p.R216G:CGA>GGA
Canonical SPDI
NC_000002.12:149571134:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00192
Trans-Omics for Precision Medicine (TOPMed) 0.00122
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00092
1000 Genomes Project 0.00120
The Genome Aggregation Database (gnomAD) 0.00354
Links
ClinGen: CA312745
dbSNP: rs141093638
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Mar 1, 2021 RCV001091563.3
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV001128816.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 30, 2017 RCV000186037.3
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Dec 8, 2020 RCV000641147.6
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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
(Feb 15, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000239001.10
Submitted: (Jul 13, 2017)
Evidence details
Comment:
The R216G variant in the MMADHC gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our … (more)
Likely benign
(May 30, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000708796.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Disorders of Intracellular Cobalamin Metabolism
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001288309.1
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
Methylmalonic acidemia with homocystinuria cblD
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001291096.1
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)
Likely benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Methylmalonic acidemia with homocystinuria cblD
Allele origin: germline
Invitae
Accession: SCV000762769.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Mar 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001247688.6
Submitted: (Jul 04, 2021)
Evidence details
Benign
(Nov 11, 2019)
no assertion criteria provided
Method: clinical testing
Methylmalonic aciduria with homocystinuria cblD type
Allele origin: germline
Natera, Inc.
Accession: SCV001461405.1
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MMADHC - - - -

Text-mined citations for rs141093638...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021