NC_000006.11:g.(?_75796253)_(75912518_?)del AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2022
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:: RCV001385960.8

Allele description [Variation Report for NC_000006.11:g.(?_75796253)_(75912518_?)del]

NC_000006.11:g.(?_75796253)_(75912518_?)del

Gene:: COL12A1:collagen type XII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 6q13-14.1
Genomic location:: Chr6: 75796253 - 75912518 (on Assembly GRCh37)
Preferred name:: NC_000006.11:g.(?_75796253)_(75912518_?)del
HGVS:: NC_000006.11:g.(?_75796253)_(75912518_?)del
This HGVS expression did not pass validation

Condition(s)

Name:: Ullrich congenital muscular dystrophy 2 (UCMD2)
Identifiers:: MONDO: MONDO:0014654; MedGen: C4225314; Orphanet: 75840; OMIM: 616470

Name:: Bethlem myopathy 2 (BTHLM2)
Identifiers:: MONDO: MONDO:0034022; MedGen: C4225313; Orphanet: 610; OMIM: 616471

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001585998	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 1, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 24334604, 28973083, 27159402, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001585998

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 1, 2022)

germline

clinical testing

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

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

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bönnemann CG.

Hum Mol Genet. 2014 May 1;23(9):2339-52. doi: 10.1093/hmg/ddt627. Epub 2013 Dec 11.

PubMed [citation]

PMID:: 24334604
PMCID:: PMC3976332

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, et al.

JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4.

PubMed [citation]

PMID:: 28973083
PMCID:: PMC6359927

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001585998.4

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

Description

A gross deletion of the genomic region encompassing the full coding sequence of the COL12A1 gene has been identified. Loss-of-function variants in COL12A1 are known to be pathogenic (PMID: 24334604, 28973083). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of COL12A1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 27159402). For these reasons, this variant has been classified as 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 5, 2025

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