NM_006260.5(DNAJC3):c.1A>G (p.Met1Val) AND Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 23, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002260896.1

Allele description [Variation Report for NM_006260.5(DNAJC3):c.1A>G (p.Met1Val)]

NM_006260.5(DNAJC3):c.1A>G (p.Met1Val)

Gene:

DNAJC3:DnaJ heat shock protein family (Hsp40) member C3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q32.1

Genomic location:

Preferred name:

NM_006260.5(DNAJC3):c.1A>G (p.Met1Val)

Other names:

M1V

HGVS:

NC_000013.11:g.95677256A>G
NG_041830.1:g.5118A>G
NM_006260.5:c.1A>GMANE SELECT
NP_006251.1:p.Met1Val
NC_000013.10:g.96329510A>G

Protein change:

MET1VAL

Links:

OMIM: 601184.0005; dbSNP: rs2139591243

NCBI 1000 Genomes Browser:

rs2139591243

Molecular consequence:

NM_006260.5:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_006260.5:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Synonyms:: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
Identifiers:: MONDO: MONDO:0014523; MedGen: C4015436; Orphanet: 445062; OMIM: 616192

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002540584	OMIM	no assertion criteria provided	Pathogenic (Jun 23, 2022)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002540584

OMIM

no assertion criteria provided

Pathogenic
(Jun 23, 2022)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes.

Lytrivi M, Senée V, Salpea P, Fantuzzi F, Philippi A, Abdulkarim B, Sawatani T, Marín-Cañas S, Pachera N, Degavre A, Singh P, Derbois C, Lechner D, Ladrière L, Igoillo-Esteve M, Cosentino C, Marselli L, Deleuze JF, Marchetti P, Eizirik DL, Nicolino M, Chaussenot A, et al.

Eur J Endocrinol. 2021 Mar;184(3):455-468. doi: 10.1530/EJE-20-0636.

PubMed [citation]

PMID:: 33486469

Details of each submission

From OMIM, SCV002540584.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a French patient (patient 1) of Armenian ancestry with combined cerebellar and peripheral ataxia with hearing loss and diabetes mellitus (ACPHD; 616192), Lytrivi et al. (2021) identified compound heterozygous mutations in the DNAJC3 gene: a paternal c.1A-G transition in exon 1, resulting in a met1-to-val (M1V) substitution, and a maternal c.1036C-T transition in exon 9, resulting in an arg346-to-ter (R346X; 601184.0006) substitution. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated fully with the disorder in the family. The mutations were not present in the gnomAD, EVS, and GME databases. DNAJC3 protein expression was undetectable in patient lymphoblasts.

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

Last Updated: Dec 24, 2023

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