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NM_017777.3(MKS1):c.508C>T (p.Arg170Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 14, 2020
Accession:
VCV000235405.3
Variation ID:
235405
Description:
single nucleotide variant
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NM_017777.3(MKS1):c.508C>T (p.Arg170Ter)

Allele ID
237090
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q22
Genomic location
17: 58214748 (GRCh38) GRCh38 UCSC
17: 56292109 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.56292109G>A
NC_000017.11:g.58214748G>A
NM_001321269.2:c.508C>T NP_001308198.1:p.Arg170Ter nonsense
... more HGVS
Protein change
R170*
Other names
-
Canonical SPDI
NC_000017.11:58214747:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA8669502
dbSNP: rs756853299
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 22, 2015 RCV000224251.1
Likely pathogenic 1 criteria provided, single submitter Aug 24, 2017 RCV000668874.1
Pathogenic 1 criteria provided, single submitter Feb 14, 2020 RCV001049084.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MKS1 - - GRCh38
GRCh37
447 460

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 24, 2017)
criteria provided, single submitter
Method: clinical testing
Meckel syndrome type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
Allele origin: unknown
Counsyl
Accession: SCV000793547.1
Submitted: (Jul 10, 2018)
Evidence details
Pathogenic
(Feb 14, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome
Meckel-Gruber syndrome
Allele origin: germline
Invitae
Accession: SCV001213118.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Arg170*) in the MKS1 gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(Oct 22, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000280971.1
Submitted: (May 19, 2016)
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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Title Author Journal Year Link
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Khaddour R Human mutation 2007 PMID: 17397051

Text-mined citations for rs756853299...

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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 Aug 11, 2021