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NM_001034852.3(SMOC1):c.378+1G>A AND Microphthalmia with limb anomalies

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 7, 2011
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:
RCV000023706.2

Allele description [Variation Report for NM_001034852.3(SMOC1):c.378+1G>A]

NM_001034852.3(SMOC1):c.378+1G>A

Gene:
SMOC1:SPARC related modular calcium binding 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.2
Genomic location:
Preferred name:
NM_001034852.3(SMOC1):c.378+1G>A
HGVS:
  • NC_000014.9:g.69953533G>A
  • NG_028217.1:g.79137G>A
  • NG_129390.1:g.554G>A
  • NM_001034852.3:c.378+1G>AMANE SELECT
  • NM_022137.6:c.378+1G>A
  • NC_000014.8:g.70420250G>A
  • NM_001034852.2:c.378+1G>A
Note:
ClinGen staff contributed the HGVS expression for this variant.
Nucleotide change:
IVS3, G-A, +1
Links:
OMIM: 608488.0003; dbSNP: rs751356341
NCBI 1000 Genomes Browser:
rs751356341
Molecular consequence:
  • NM_001034852.3:c.378+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_022137.6:c.378+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Microphthalmia with limb anomalies (MLA)
Synonyms:
ANOPHTHALMIA-SYNDACTYLY; OPHTHALMOACROMELIC SYNDROME; MICROPHTHALMIA AND LIMB ANOMALIES
Identifiers:
MONDO: MONDO:0008800; MedGen: C0599973; Orphanet: 1106; OMIM: 206920

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044997OMIM
no assertion criteria provided
Pathogenic
(Jan 7, 2011) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

SMOC1 is essential for ocular and limb development in humans and mice.

Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, et al.

Am J Hum Genet. 2011 Jan 7;88(1):30-41. doi: 10.1016/j.ajhg.2010.11.012. Epub 2010 Dec 30.

PubMed [citation]
PMID:
21194678
PMCID:
PMC3014372

Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

Abouzeid H, Boisset G, Favez T, Youssef M, Marzouk I, Shakankiry N, Bayoumi N, Descombes P, Agosti C, Munier FL, Schorderet DF.

Am J Hum Genet. 2011 Jan 7;88(1):92-8. doi: 10.1016/j.ajhg.2010.12.002. Epub 2010 Dec 30.

PubMed [citation]
PMID:
21194680
PMCID:
PMC3014360

Details of each submission

From OMIM, SCV000044997.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a female patient with microphthalmia and limb anomalies (MLA; 206920), born of consanguineous Turkish parents, Okada et al. (2011) identified homozygosity for a 378+1G-A transition in intron 3 of the SMOC1 gene, predicted to abolish a splice donor site. The mutation was not found in 99 Turkish or 289 Japanese controls.

In 2 sisters with MLA from a consanguineous Egyptian family, Abouzeid et al. (2011) identified homozygosity for the 378+1G-A mutation in intron 3 of the SMOC1 gene. The mutation was detected in heterozygosity in the unaffected parents, but was not found in 556 control chromosomes from individuals of Egyptian, North African, and European descent.

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

Last Updated: May 16, 2025