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NM_173630.4(RTTN):c.4877C>T (p.Thr1626Met)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
Apr 1, 2019
Accession:
VCV000389771.9
Variation ID:
389771
Description:
single nucleotide variant
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NM_173630.4(RTTN):c.4877C>T (p.Thr1626Met)

Allele ID
379103
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q22.2
Genomic location
18: 70059913 (GRCh38) GRCh38 UCSC
18: 67727149 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.70059913G>A
NC_000018.9:g.67727149G>A
NG_033104.1:g.150814C>T
... more HGVS
Protein change
T1626M, T714M
Other names
-
Canonical SPDI
NC_000018.10:70059912:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00007
The Genome Aggregation Database (gnomAD) 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Exome Aggregation Consortium (ExAC) 0.00007
Links
ClinGen: CA8995115
dbSNP: rs781683199
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Feb 5, 2018 RCV000444631.2
Uncertain significance 1 criteria provided, single submitter Apr 1, 2019 RCV000996700.2
Uncertain significance 1 criteria provided, single submitter Jan 3, 2019 RCV001333061.1
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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
Likely benign
(Feb 05, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000532421.4
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)
Uncertain significance
(Jan 03, 2019)
criteria provided, single submitter
Method: clinical testing
Microcephaly, short stature, and polymicrogyria with or without seizures
Allele origin: unknown
Baylor Genetics
Accession: SCV001525546.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Uncertain significance
(Apr 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001151564.7
Submitted: (Jul 04, 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 rs781683199...

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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