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NM_030777.4(SLC2A10):c.237C>T (p.Leu79=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 19, 2019
Accession:
VCV000139169.7
Variation ID:
139169
Description:
single nucleotide variant
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NM_030777.4(SLC2A10):c.237C>T (p.Leu79=)

Allele ID
142872
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20q13.12
Genomic location
20: 46725273 (GRCh38) GRCh38 UCSC
20: 45353912 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.45353912C>T
NC_000020.11:g.46725273C>T
NM_030777.4:c.237C>T MANE Select NP_110404.1:p.Leu79= synonymous
NG_016284.1:g.20634C>T
Protein change
-
Other names
p.L79L:CTC>CTT
Canonical SPDI
NC_000020.11:46725272:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Links
ClinGen: CA293543
dbSNP: rs201323237
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jun 19, 2019 RCV000357718.5
Benign 1 criteria provided, single submitter May 1, 2013 RCV000128119.3
Benign 1 criteria provided, single submitter Mar 14, 2017 RCV000621541.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC2A10 - - GRCh38
GRCh37
378 387

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Arterial tortuosity syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000434148.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Mar 14, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000739656.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Benign
(May 01, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000171711.12
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jun 19, 2019)
criteria provided, single submitter
Method: clinical testing
Arterial tortuosity syndrome
Allele origin: germline
Invitae
Accession: SCV000765722.4
Submitted: (Jan 07, 2021)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs201323237...

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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 Jun 14, 2021