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NM_052867.4(NALCN):c.965T>C (p.Ile322Thr) AND Congenital contractures of the limbs and face, hypotonia, and developmental delay

Germline classification:
Pathogenic (1 submission)
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:
RCV000416463.3

Allele description [Variation Report for NM_052867.4(NALCN):c.965T>C (p.Ile322Thr)]

NM_052867.4(NALCN):c.965T>C (p.Ile322Thr)

Gene:
NALCN:sodium leak channel, non-selective [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q33.1
Genomic location:
Preferred name:
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr)
HGVS:
  • NC_000013.11:g.101292072A>G
  • NG_053176.1:g.130135T>C
  • NM_001350748.2:c.965T>C
  • NM_001350749.2:c.965T>C
  • NM_001350750.2:c.965T>C
  • NM_001350751.2:c.965T>C
  • NM_052867.4:c.965T>CMANE SELECT
  • NP_001337677.1:p.Ile322Thr
  • NP_001337678.1:p.Ile322Thr
  • NP_001337679.1:p.Ile322Thr
  • NP_001337680.1:p.Ile322Thr
  • NP_443099.1:p.Ile322Thr
  • NC_000013.10:g.101944423A>G
  • NM_052867.2:c.965T>C
Protein change:
I322T
Links:
dbSNP: rs1057519433
NCBI 1000 Genomes Browser:
rs1057519433
Molecular consequence:
  • NM_001350748.2:c.965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350749.2:c.965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350750.2:c.965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350751.2:c.965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052867.4:c.965T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD)
Identifiers:
MONDO: MONDO:0014556; MedGen: C4225398; OMIM: 616266

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000494154Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
no assertion criteria provided
Pathogenicde novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000494154.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

This variant was identified as de novo in an individual with developmental delay, brain malformation, hypotonia, dysmorphic features, congenital heart disease, and distal arthrogryposis.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024