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NM_174936.4(PCSK9):c.1906A>C (p.Ser636Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 26, 2021)
Last evaluated:
May 24, 2021
Accession:
VCV001120257.1
Variation ID:
1120257
Description:
single nucleotide variant
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NM_174936.4(PCSK9):c.1906A>C (p.Ser636Arg)

Allele ID
1109149
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p32.3
Genomic location
1: 55063411 (GRCh38) GRCh38 UCSC
1: 55529084 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_275:g.28865A>C
NC_000001.10:g.55529084A>C
NC_000001.11:g.55063411A>C
... more HGVS
Protein change
S636R
Other names
-
Canonical SPDI
NC_000001.11:55063410:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 May 24, 2021 RCV001450047.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PCSK9 Dosage sensitivity unlikely No evidence available GRCh38
GRCh37
777 791

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 24, 2021)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia 3
Allele origin: germline
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II
Accession: SCV001653674.1
Submitted: (May 26, 2021)
Evidence details
Publications
PubMed (1)
Comment:
Gain of function according to functional studies PMID:29127338

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
Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia. Di Taranto MD Scientific reports 2017 PMID: 29127338

Record last updated Oct 08, 2021