NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys) AND Hereditary factor VIII deficiency disease

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Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 7, 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:: RCV004526222.1

Allele description

NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)

Gene:

CDH23:cadherin related 23 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

Preferred name:

NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)

HGVS:

NC_000010.11:g.71778222G>A
NG_008835.1:g.386276G>A
NM_022124.6:c.5101G>AMANE SELECT
NP_071407.4:p.Glu1701Lys
NC_000010.10:g.73537979G>A

Protein change:

E1701K

Molecular consequence:

NM_022124.6:c.5101G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary factor VIII deficiency disease (HEMA)
Synonyms:: AUTOSOMAL HEMOPHILIA A; Hemophilia A; Hemophilia A, congenital; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010602; MedGen: C0019069; Orphanet: 98878; OMIM: 134500; OMIM: 306700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005040052	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely pathogenic (Mar 7, 2024)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 24416283, 31445392, 34752165, 29287849 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005040052

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely pathogenic
(Mar 7, 2024)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

Ganapathy A, Pandey N, Srisailapathy CR, Jalvi R, Malhotra V, Venkatappa M, Chatterjee A, Sharma M, Santhanam R, Chadha S, Ramesh A, Agarwal AK, Rangasayee RR, Anand A.

PLoS One. 2014;9(1):e84773. doi: 10.1371/journal.pone.0084773.

PubMed [citation]

PMID:: 24416283
PMCID:: PMC3885616

Identification of a novel CDH23 gene variant associated with non-syndromic progressive hearing loss in a Chinese family: Individualized hearing rehabilitation guided by genetic diagnosis.

Chen Y, Li Y, Ren Y, Li H, Huang M, Jia H, Yang T, Wang Z, Huang Z, Wu H.

Int J Pediatr Otorhinolaryngol. 2019 Dec;127:109649. doi: 10.1016/j.ijporl.2019.109649. Epub 2019 Aug 19. No abstract available.

PubMed [citation]

PMID:: 31445392

See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005040052.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

Variant summary: F8 c.5101G>A (p.Glu1701Lys) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 180470 control chromosomes. c.5101G>A has been reported in the literature in individuals affected with Factor VIII Deficiency (Hemophilia A). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. ClinVar contains an entry for this variant (Variation ID: 2683573). Based on the evidence outlined above, the variant was classified as likely pathogenic.

#	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: Jul 7, 2024

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