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NM_015443.4(KANSL1):c.954A>T (p.Gln318His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2
First in ClinVar:
Mar 28, 2022
Most recent Submission:
Dec 31, 2022
Last evaluated:
Oct 21, 2021
Accession:
VCV001476587.2
Variation ID:
1476587
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.954A>T (p.Gln318His)

Allele ID
1339360
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46171190 (GRCh38) GRCh38 UCSC
17: 44248556 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.954A>T MANE Select NP_056258.1:p.Gln318His missense
NM_001193465.2:c.954A>T NP_001180394.1:p.Gln318His missense
NM_001193466.2:c.954A>T NP_001180395.1:p.Gln318His missense
... more HGVS
Protein change
Q318H
Other names
-
Canonical SPDI
NC_000017.11:46171189:T:A
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 2 criteria provided, multiple submitters, no conflicts Oct 21, 2021 RCV001978019.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KANSL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh38
GRCh37
1071 1218

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
Koolen-de Vries syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV002262708.1
First in ClinVar: Mar 28, 2022
Last updated: Mar 28, 2022
Comment:
Due to the possible presence of a polymorphic segmental duplication, the location of the variant could not be unambiguously resolved. Variants with ambiguous mapping are … (more)
Uncertain significance
(Oct 21, 2021)
criteria provided, single submitter
Method: clinical testing
Koolen-de Vries syndrome
Affected status: unknown
Allele origin: unknown
Fulgent Genetics, Fulgent Genetics
Accession: SCV002792764.1
First in ClinVar: Dec 31, 2022
Last updated: Dec 31, 2022

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 Jan 07, 2023