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NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jun 21, 2020)
Last evaluated:
Jan 1, 2019
Accession:
VCV000618799.2
Variation ID:
618799
Description:
single nucleotide variant
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NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)

Allele ID
609984
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2106906 (GRCh38) GRCh38 UCSC
16: 2156907 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2106906A>G
NC_000016.9:g.2156907A>G
NM_001009944.3:c.7108T>C MANE Select NP_001009944.3:p.Cys2370Arg missense
... more HGVS
Protein change
C2370R
Other names
-
Canonical SPDI
NC_000016.10:2106905:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1567187445
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Jan 1, 2019 RCV000757630.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PKD1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
1761 2099

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 20, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000885929.1
Submitted: (Oct 10, 2018)
Evidence details
Likely pathogenic
(Jan 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research
Accession: SCV001422416.1
Submitted: (Jun 21, 2020)
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 rs1567187445...

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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 Nov 27, 2020