NM_000431.4(MVK):c.608T>C (p.Val203Ala) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Jan 13, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000217732.7

Allele description [Variation Report for NM_000431.4(MVK):c.608T>C (p.Val203Ala)]

NM_000431.4(MVK):c.608T>C (p.Val203Ala)

Gene:

MVK:mevalonate kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

Preferred name:

NM_000431.4(MVK):c.608T>C (p.Val203Ala)

HGVS:

NC_000012.12:g.109586102T>C
NG_007702.1:g.17408T>C
NM_000431.4:c.608T>CMANE SELECT
NM_001114185.3:c.608T>C
NM_001301182.2:c.452T>C
NP_000422.1:p.Val203Ala
NP_001107657.1:p.Val203Ala
NP_001288111.1:p.Val151Ala
LRG_156t1:c.608T>C
LRG_156:g.17408T>C
NC_000012.11:g.110023907T>C
NM_000431.1:c.608T>C
NM_000431.2:c.608T>C
NM_000431.3:c.608T>C
NM_001114185.1:c.608T>C
p.Val203Ala

Protein change:

V151A

Links:

dbSNP: rs104895332

NCBI 1000 Genomes Browser:

rs104895332

Molecular consequence:

NM_000431.4:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001114185.3:c.608T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001301182.2:c.452T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000279119	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jan 13, 2020)	germline	clinical testing	Citation Link,
SCV001716137	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 3, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 15188372, 29047407, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000279119

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jan 13, 2020)

germline

clinical testing

Citation Link,

SCV001716137

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 3, 2019)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodi...

Stojanov S, Lohse P, Lohse P, Hoffmann F, Renner ED, Zellerer S, Kéry A, Shin YS, Haas D, Hoffmann GF, Belohradsky BH.

Arthritis Rheum. 2004 Jun;50(6):1951-8.

PubMed [citation]

PMID:: 15188372

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

Papa R, Doglio M, Lachmann HJ, Ozen S, Frenkel J, Simon A, Neven B, Kuemmerle-Deschner J, Ozgodan H, Caorsi R, Federici S, Finetti M, Trachana M, Brunner J, Bezrodnik L, Pinedo Gago MC, Maggio MC, Tsitsami E, Al Suwairi W, Espada G, Shcherbina A, Aksu G, et al.

Orphanet J Rare Dis. 2017 Oct 18;12(1):167. doi: 10.1186/s13023-017-0720-3.

PubMed [citation]

PMID:: 29047407
PMCID:: PMC5648458

See all PubMed Citations (3)

Details of each submission

From GeneDx, SCV000279119.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Published functional studies demonstrate a damaging effect on enzyme activity (Stojanov et al., 2004); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 15188372)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV001716137.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

Description

PM3, PP3, PP4, PS3_moderate

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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