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NM_001354689.3(RAF1):c.524A>G (p.His175Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
May 29, 2020
Accession:
VCV000040594.8
Variation ID:
40594
Description:
single nucleotide variant
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NM_001354689.3(RAF1):c.524A>G (p.His175Arg)

Allele ID
49064
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.2
Genomic location
3: 12608823 (GRCh38) GRCh38 UCSC
3: 12650322 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.12650322T>C
NC_000003.12:g.12608823T>C
NG_007467.1:g.60357A>G
... more HGVS
Protein change
H175R, H94R
Other names
-
Canonical SPDI
NC_000003.12:12608822:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA261614
dbSNP: rs397516822
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter May 23, 2013 RCV000037693.3
Pathogenic 1 criteria provided, single submitter Jan 12, 2018 RCV000788414.1
Uncertain significance 1 criteria provided, single submitter Jul 1, 2019 RCV001213204.2
Pathogenic 1 criteria provided, single submitter May 29, 2020 RCV001254110.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RAF1 No evidence available No evidence available GRCh38
GRCh37
566 619

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 23, 2013)
criteria provided, single submitter
Method: clinical testing
Noonan syndrome
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061355.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The His175Arg variant in the RAF1 gene has not been previously reported in the l iterature. This variant was not identified in either parent of … (more)
Pathogenic
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Blueprint Genetics
Accession: SCV000927514.1
Submitted: (May 08, 2019)
Comment:
Patient analyzed with Hypertrophic Cardiomyopathy (HCM) Panel
Evidence details
Pathogenic
(May 29, 2020)
criteria provided, single submitter
Method: clinical testing
Noonan syndrome 5
(Autosomal dominant inheritance)
Allele origin: de novo
Institute of Human Genetics, Klinikum rechts der Isar
Accession: SCV001430040.1
Submitted: (Aug 10, 2020)
Evidence details
Uncertain significance
(Jul 01, 2019)
criteria provided, single submitter
Method: clinical testing
Rasopathy
Allele origin: germline
Invitae
Accession: SCV001384825.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces histidine with arginine at codon 175 of the RAF1 protein (p.His175Arg). The histidine residue is highly conserved and there is a … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Noonan syndrome
Allele origin: de novo
Service de Génétique Moléculaire,Hôpital Robert Debré
Accession: SCV001438428.1
Submitted: (Mar 26, 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 rs397516822...

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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 24, 2021