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NM_003384.3(VRK1):c.1070A>T (p.Lys357Met) AND Pontocerebellar hypoplasia type 1A

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 25, 2021
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:
RCV001830726.2

Allele description [Variation Report for NM_003384.3(VRK1):c.1070A>T (p.Lys357Met)]

NM_003384.3(VRK1):c.1070A>T (p.Lys357Met)

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.1070A>T (p.Lys357Met)
HGVS:
  • NC_000014.9:g.96876031A>T
  • NG_016293.1:g.83685A>T
  • NM_003384.3:c.1070A>TMANE SELECT
  • NP_003375.1:p.Lys357Met
  • NC_000014.8:g.97342368A>T
  • NM_003384.2:c.1070A>T
Protein change:
K357M
Links:
dbSNP: rs1595691552
NCBI 1000 Genomes Browser:
rs1595691552
Molecular consequence:
  • NM_003384.3:c.1070A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pontocerebellar hypoplasia type 1A (PCH1A)
Synonyms:
Pontocerebellar hypoplasia with infantile spinal muscular atrophy; Pontocerebellar hypoplasia with anterior horn cell disease
Identifiers:
Gene: 100852400; MONDO: MONDO:0011866; MedGen: C1843504; Orphanet: 2254; Orphanet: 88616; OMIM: 607596

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002094348Natera, Inc.
no assertion criteria provided
Uncertain significance
(Mar 25, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002094348.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024