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NM_020184.4(CNNM4):c.1220G>T (p.Arg407Leu)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 14, 2019)
Last evaluated:
Aug 16, 2017
Accession:
VCV000627568.2
Variation ID:
627568
Description:
single nucleotide variant
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NM_020184.4(CNNM4):c.1220G>T (p.Arg407Leu)

Allele ID
615923
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q11.2
Genomic location
2: 96762219 (GRCh38) GRCh38 UCSC
2: 97427956 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.97427956G>T
NC_000002.12:g.96762219G>T
NG_016608.1:g.6318G>T
NM_020184.4:c.1220G>T MANE Select NP_064569.3:p.Arg407Leu missense
Protein change
R407L
Other names
-
Canonical SPDI
NC_000002.12:96762218:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1574047454
VarSome
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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 Aug 16, 2017 RCV000855673.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CNNM4 - - GRCh38
GRCh37
253 308

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 16, 2017)
no assertion criteria provided
Method: research
Jalili syndrome
(Autosomal recessive inheritance)
Allele origin: germline
Institute of Human Genetics,University Hospital Ulm
Accession: SCV000902267.1
Submitted: (May 14, 2019)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations. Parveen A Molecular genetics & genomic medicine 2019 PMID: 31347285

Text-mined citations for rs1574047454...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021