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NM_000431.4(MVK):c.297C>T (p.Asp99=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 10, 2021)
Last evaluated:
Feb 24, 2020
Accession:
VCV000736383.4
Variation ID:
736383
Description:
single nucleotide variant
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NM_000431.4(MVK):c.297C>T (p.Asp99=)

Allele ID
753079
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109579872 (GRCh38) GRCh38 UCSC
12: 110017677 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.110017677C>T
NC_000012.12:g.109579872C>T
NG_007702.1:g.11178C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:109579871:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00005
Links
dbSNP: rs376323791
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Feb 24, 2020 RCV000912022.3
Likely benign 1 criteria provided, single submitter Jul 12, 2018 RCV001428727.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MVK - - GRCh38
GRCh37
333 369

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jul 13, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001057107.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Jul 12, 2018)
criteria provided, single submitter
Method: clinical testing
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Allele origin: germline
Invitae
Accession: SCV001631434.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Feb 24, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001849574.1
Submitted: (Sep 10, 2021)
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.

Text-mined citations for rs376323791...

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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 Sep 24, 2021