ClinVar Miner

Submissions for variant NM_032208.3(ANTXR1):c.1435-12A>G

dbSNP: rs879255533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003390738 SCV004121674 uncertain significance ANTXR1-related disorder 2022-10-06 criteria provided, single submitter clinical testing The ANTXR1 c.1435-12A>G variant is predicted to interfere with splicing. This variant was reported in the homozygous state in an individual with autosomal recessive GAPO syndrome (Stránecký et al. 2013. PubMed ID: 23602711). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant could be pathogenic for ANTXR1-related autosomal recessive disease, at this time, the clinical significance of this variant is uncertain due to insufficient functional and genetic evidence. The clinical significance of this variant in relation to autosomal dominant susceptibility to infantile capillary hemangioma is uncertain.
OMIM RCV000043623 SCV000071648 pathogenic GAPO syndrome 2013-05-02 no assertion criteria provided literature only

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