NM_001038603.3(MARVELD2):c.1295del (p.His432fs) AND Autosomal recessive nonsyndromic hearing loss 49

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 9, 2025
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:: RCV005053146.1

Allele description [Variation Report for NM_001038603.3(MARVELD2):c.1295del (p.His432fs)]

NM_001038603.3(MARVELD2):c.1295del (p.His432fs)

Gene:

MARVELD2:MARVEL domain containing 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q13.2

Genomic location:

Preferred name:

NM_001038603.3(MARVELD2):c.1295del (p.His432fs)

HGVS:

NC_000005.10:g.69432639del
NG_017201.2:g.22528del
NM_001038603.3:c.1295delMANE SELECT
NM_001244734.2:c.1259del
NP_001033692.2:p.His432fs
NP_001231663.1:p.His420fs
LRG_1380t1:c.1295del
LRG_1380:g.22528del
LRG_1380p1:p.His432fs
NC_000005.9:g.68728466del

Protein change:

H420fs

Molecular consequence:

NM_001038603.3:c.1295del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001244734.2:c.1259del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 49
Synonyms:: Deafness, neurosensory, autosomal recessive 49
Identifiers:: MONDO: MONDO:0012420; MedGen: C1857811; Orphanet: 90636; OMIM: 610153

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005686777	Institute of Rare Diseases, West China Hospital, Sichuan University	criteria provided, single submitter (ClinGen HL ACMG Specifications v1)	Pathogenic (Jan 9, 2025)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005686777

Institute of Rare Diseases, West China Hospital, Sichuan University

criteria provided, single submitter

(ClinGen HL ACMG Specifications v1)

Pathogenic
(Jan 9, 2025)

germline

research

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	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]

PMID:: 30311386
PMCID:: PMC6188673

Details of each submission

From Institute of Rare Diseases, West China Hospital, Sichuan University, SCV005686777.1

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

Description

PVS1;PM3;PM2_Supporting

#	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: May 16, 2025

ClinVar

Relating variation to medicine