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NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 3, 2020
Accession:
VCV000840781.2
Variation ID:
840781
Description:
single nucleotide variant
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NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys)

Allele ID
825573
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q33.1
Genomic location
2: 201624299 (GRCh38) GRCh38 UCSC
2: 202489022 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.202489022C>T
NC_000002.12:g.201624299C>T
NG_032049.1:g.24231G>A
... more HGVS
Protein change
E387K, E395K
Other names
-
Canonical SPDI
NC_000002.12:201624298:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 3, 2020 RCV001042865.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TMEM237 - - GRCh38
GRCh37
265 297

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 03, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 14
Allele origin: germline
Invitae
Accession: SCV001206572.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamic acid with lysine at codon 395 of the TMEM237 protein (p.Glu395Lys). The glutamic acid residue is moderately conserved and there … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021