NM_000186.4(CFH):c.2488C>T (p.Arg830Trp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 30, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001967545.6

Allele description [Variation Report for NM_000186.4(CFH):c.2488C>T (p.Arg830Trp)]

NM_000186.4(CFH):c.2488C>T (p.Arg830Trp)

Gene:

CFH:complement factor H [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_000186.4(CFH):c.2488C>T (p.Arg830Trp)

HGVS:

NC_000001.11:g.196736898C>T
NG_007259.1:g.89888C>T
NM_000186.4:c.2488C>TMANE SELECT
NP_000177.2:p.Arg830Trp
LRG_47:g.89888C>T
NC_000001.10:g.196706028C>T

Protein change:

R830W

Links:

dbSNP: rs62641696

NCBI 1000 Genomes Browser:

rs62641696

Molecular consequence:

NM_000186.4:c.2488C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002213415	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 30, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 28941939, 29888403, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002213415

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 30, 2024)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Complete functional characterization of disease-associated genetic variants in the complement factor H gene.

Merinero HM, García SP, García-Fernández J, Arjona E, Tortajada A, Rodríguez de Córdoba S.

Kidney Int. 2018 Feb;93(2):470-481. doi: 10.1016/j.kint.2017.07.015. Epub 2017 Sep 21.

PubMed [citation]

PMID:: 28941939

Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Geerlings MJ, Volokhina EB, de Jong EK, van de Kar N, Pauper M, Hoyng CB, van den Heuvel LP, den Hollander AI.

Clin Genet. 2018 Oct;94(3-4):330-338. doi: 10.1111/cge.13392. Epub 2018 Jul 10.

PubMed [citation]

PMID:: 29888403
PMCID:: PMC6175426

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002213415.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 830 of the CFH protein (p.Arg830Trp). This variant is present in population databases (rs62641696, gnomAD 0.03%). This missense change has been observed in individual(s) with atypical hemolytic uremic syndrome and/or C3-glomerulopathy (PMID: 28941939, 29888403). ClinVar contains an entry for this variant (Variation ID: 1431503). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant¬†is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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