NM_001042681.2(RERE):c.4304A>T (p.His1435Leu) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 3, 2017
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:: RCV000521494.1

Allele description [Variation Report for NM_001042681.2(RERE):c.4304A>T (p.His1435Leu)]

NM_001042681.2(RERE):c.4304A>T (p.His1435Leu)

Gene:

RERE:arginine-glutamic acid dipeptide repeats [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.23

Genomic location:

Preferred name:

NM_001042681.2(RERE):c.4304A>T (p.His1435Leu)

HGVS:

NC_000001.11:g.8358231T>A
NG_047035.1:g.464461A>T
NM_001042681.2:c.4304A>TMANE SELECT
NM_001042682.2:c.2642A>T
NM_012102.4:c.4304A>T
NP_001036146.1:p.His1435Leu
NP_001036147.1:p.His881Leu
NP_036234.3:p.His1435Leu
NC_000001.10:g.8418291T>A
NM_012102.3:c.4304A>T

Protein change:

H1435L

Links:

dbSNP: rs1553154130

NCBI 1000 Genomes Browser:

rs1553154130

Molecular consequence:

NM_001042681.2:c.4304A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001042682.2:c.2642A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_012102.4:c.4304A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000621198	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Oct 3, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000621198

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Oct 3, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000621198.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The H1435L variant in the RERE gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H1435L variant is not observed in large population cohorts (Lek et al., 2016). The H1435L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret H1435L as a likely pathogenic variant.

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

Last Updated: Apr 23, 2022

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