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NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 13, 2021)
Last evaluated:
Oct 6, 2020
Accession:
VCV000447988.9
Variation ID:
447988
Description:
single nucleotide variant
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NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val)

Allele ID
441859
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2109714 (GRCh38) GRCh38 UCSC
16: 2159715 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2109714G>A
NC_000016.9:g.2159715G>A
NG_008617.1:g.31185C>T
... more HGVS
Protein change
A1818V
Other names
-
Canonical SPDI
NC_000016.10:2109713:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00005
The Genome Aggregation Database (gnomAD) 0.00010
Links
ClinGen: CA7831972
dbSNP: rs746910149
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Oct 6, 2020 RCV000518272.2
Likely benign 1 criteria provided, single submitter Jan 1, 2020 RCV001092714.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 29, 2019 RCV001262469.2
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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
1750 2084

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 01, 2019)
criteria provided, single submitter
Method: clinical testing
Polycystic kidney disease, adult type
Allele origin: unknown
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001440363.1
Submitted: (Oct 12, 2020)
Evidence details
Uncertain significance
(Aug 29, 2019)
criteria provided, single submitter
Method: clinical testing
Polycystic kidney disease, adult type
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001474392.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The PKD1 c.5453C>T; p.Ala1818Val variant (rs746910149), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 447988). This … (more)
Likely benign
(Jan 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001249350.5
Submitted: (Jul 04, 2021)
Evidence details
Benign
(Oct 06, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV000614508.2
Submitted: (Sep 13, 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 rs746910149...

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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 Sep 18, 2021