ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2754+5G>A (rs1057518666)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489508 SCV000577410 pathogenic not provided 2017-03-30 criteria provided, single submitter clinical testing The c.2754+5G>A variant in the COL11A1 gene, using alternate nomenclature c.2755+5G>A, has been reported previously in the heterozygous state in association with Stickler syndrome (Richards et al., 2010). This variant destroys the splice donor site at intron 35, and is expected to cause abnormal gene splicing. The c.2754+5G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2754+5G>A as a pathogenic variant.
Baylor Genetics RCV000414977 SCV000328741 likely pathogenic Stickler syndrome type 2 2016-05-01 no assertion criteria provided clinical testing Our laboratory reported two molecular diagnoses in COL11A1 (NM_080630.2:c.2754+5G>A) and KRIT1 (NM_194456.1:c.146_147del) in an individual with hearing loss, tics, dysmorphic features, macrocephaly, vision loss, chronic otitis media, reactive airway disease, food allergy, urticaria, eczema, and keratosis pilaris.

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