ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3816+1G>A (rs398122828)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623510 SCV000741536 pathogenic Inborn genetic diseases 2016-06-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000579344 SCV000335759 pathogenic not provided 2015-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000579344 SCV000680761 pathogenic not provided 2017-12-19 criteria provided, single submitter clinical testing The c.3816+1 G>A pathogenic variant in the COL11A1 gene has been reported in association with Marshall syndrome and Stickler syndrome (Griffith et al., 1998; Majava et al., 2007; Ala-Kokko et al., 2009). Additionally, Guo et al. (2017) reported this variant as a de novo variant in a patient with features of Stickler syndrome. The c.3816+1 G>A variant has also been shown to segregate with Marshall syndrome in multiple relatives from two unrelated families (Griffith et al., 1998; Khalifa et al., 2014). Furthermore, this variant has been classified as a pathogenic variant by another clinical laboratory in ClinVar (SCV000335759.2; Landrum et al., 2016). The c.3816+1 G>A variant destroys the canonical splice donor site in intron 50 which is located within a triple helical region of the COL11A1 gene and is predicted to cause abnormal gene splicing. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site variants in the COL11A1 gene have been reported in HGMD in association with COL11A1-related disorders (Stenson et al., 2014). Furthermore, the c.3816+1 G>A variant is not observed in large population cohorts (Lek et al., 2016).
OMIM RCV000032995 SCV000038953 pathogenic Marshall syndrome 2007-02-01 no assertion criteria provided literature only

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