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NM_174878.3(CLRN1):c.186G>C (p.Gln62His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 20, 2023
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:
RCV004437316.1

Allele description [Variation Report for NM_174878.3(CLRN1):c.186G>C (p.Gln62His)]

NM_174878.3(CLRN1):c.186G>C (p.Gln62His)

Gene:
CLRN1:clarin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q25.1
Genomic location:
Preferred name:
NM_174878.3(CLRN1):c.186G>C (p.Gln62His)
HGVS:
  • NC_000003.12:g.150972523C>G
  • NG_009168.1:g.5477G>C
  • NM_001195794.1:c.186G>C
  • NM_001256819.2:c.186G>C
  • NM_174878.3:c.186G>CMANE SELECT
  • NP_001182723.1:p.Gln62His
  • NP_001243748.1:p.Gln62His
  • NP_777367.1:p.Gln62His
  • LRG_700t1:c.186G>C
  • LRG_700:g.5477G>C
  • LRG_700p1:p.Gln62His
  • NC_000003.11:g.150690310C>G
  • NM_174878.2:c.186G>C
  • NR_046380.3:n.205G>C
Protein change:
Q62H
Molecular consequence:
  • NM_001195794.1:c.186G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256819.2:c.186G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_174878.3:c.186G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046380.3:n.205G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004926970Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 20, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004926970.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.186G>C (p.Q62H) alteration is located in exon 1 (coding exon 1) of the CLRN1 gene. This alteration results from a G to C substitution at nucleotide position 186, causing the glutamine (Q) at amino acid position 62 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024