NM_003384.3(VRK1):c.197C>G (p.Ala66Gly) AND Distal spinal muscular atrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 1, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002227297.1

Allele description [Variation Report for NM_003384.3(VRK1):c.197C>G (p.Ala66Gly)]

NM_003384.3(VRK1):c.197C>G (p.Ala66Gly)

Gene:

VRK1:VRK serine/threonine kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.2

Genomic location:

Preferred name:

NM_003384.3(VRK1):c.197C>G (p.Ala66Gly)

HGVS:

NC_000014.9:g.96837798C>G
NG_016293.1:g.45452C>G
NM_003384.3:c.197C>GMANE SELECT
NP_003375.1:p.Ala66Gly
NC_000014.8:g.97304135C>G
NM_003384.2:c.197C>G

Protein change:

A66G

Links:

dbSNP: rs1887280587

NCBI 1000 Genomes Browser:

rs1887280587

Molecular consequence:

NM_003384.3:c.197C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Distal spinal muscular atrophy
Synonyms:: Distal hereditary motor neuropathy; Neuronopathy, distal hereditary motor
Identifiers:: MONDO: MONDO:0018894; MedGen: C0393541

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002505668	Genome Diagnostics Laboratory, University Medical Center Utrecht	no assertion criteria provided	Likely pathogenic (Jul 1, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002505668

Genome Diagnostics Laboratory, University Medical Center Utrecht

no assertion criteria provided

Likely pathogenic
(Jul 1, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	1	1	not provided	not provided	yes	clinical testing

Details of each submission

From Genome Diagnostics Laboratory, University Medical Center Utrecht, SCV002505668.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Jun 17, 2024

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