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NM_003632.3(CNTNAP1):c.635T>C (p.Leu212Pro)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 27, 2018)
Last evaluated:
Nov 27, 2018
Accession:
VCV000590912.1
Variation ID:
590912
Description:
single nucleotide variant
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NM_003632.3(CNTNAP1):c.635T>C (p.Leu212Pro)

Allele ID
581856
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42685340 (GRCh38) GRCh38 UCSC
17: 40837358 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40837358T>C
NC_000017.11:g.42685340T>C
NM_003632.3:c.635T>C NP_003623.1:p.Leu212Pro missense
NG_042091.1:g.7727T>C
Protein change
L212P
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 602346.0009
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Nov 27, 2018 RCV000722094.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CNTNAP1 - - GRCh38
GRCh37
19 27

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 27, 2018)
no assertion criteria provided
Method: literature only
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
Allele origin: germline
OMIM
Accession: SCV000853280.1
Submitted: (Nov 27, 2018)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. Low KJ European journal of human genetics : EJHG 2018 PMID: 29511323

Record last updated Jun 17, 2019