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NM_173630.4(RTTN):c.1738C>T (p.Arg580Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Apr 10, 2018
Accession:
VCV000444437.9
Variation ID:
444437
Description:
single nucleotide variant
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NM_173630.4(RTTN):c.1738C>T (p.Arg580Cys)

Allele ID
438077
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q22.2
Genomic location
18: 70166983 (GRCh38) GRCh38 UCSC
18: 67834219 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.70166983G>A
NC_000018.9:g.67834219G>A
NG_033104.1:g.43744C>T
... more HGVS
Protein change
R580C
Other names
-
Canonical SPDI
NC_000018.10:70166982:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00017
The Genome Aggregation Database (gnomAD) 0.00006
Exome Aggregation Consortium (ExAC) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00009
Trans-Omics for Precision Medicine (TOPMed) 0.00012
Links
ClinGen: CA8996096
dbSNP: rs368918234
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 1, 2017 RCV000512846.3
Uncertain significance 1 criteria provided, single submitter Apr 10, 2018 RCV001334661.1
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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
(Mar 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000608864.11
Submitted: (Jul 04, 2021)
Evidence details
Uncertain significance
(Apr 10, 2018)
criteria provided, single submitter
Method: clinical testing
Microcephaly, short stature, and polymicrogyria with or without seizures
Allele origin: paternal
Baylor Genetics
Accession: SCV001527567.1
Submitted: (Mar 05, 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.

Text-mined citations for rs368918234...

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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 Oct 07, 2021