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NM_173630.4(RTTN):c.350C>T (p.Ser117Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 21, 2021)
Last evaluated:
Oct 12, 2019
Accession:
VCV001031272.1
Variation ID:
1031272
Description:
single nucleotide variant
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NM_173630.4(RTTN):c.350C>T (p.Ser117Leu)

Allele ID
1018478
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q22.2
Genomic location
18: 70204133 (GRCh38) GRCh38 UCSC
18: 67871369 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.70204133G>A
NC_000018.9:g.67871369G>A
NM_173630.4:c.350C>T MANE Select NP_775901.3:p.Ser117Leu missense
... more HGVS
Protein change
S117L
Other names
-
Canonical SPDI
NC_000018.10:70204132:G: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 1 criteria provided, single submitter Oct 12, 2019 RCV001333056.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RTTN - - GRCh38
GRCh37
411 542

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 12, 2019)
criteria provided, single submitter
Method: clinical testing
Microcephaly, short stature, and polymicrogyria with or without seizures
Allele origin: unknown
Baylor Genetics
Accession: SCV001525541.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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 Mar 28, 2021