ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1351-1G>A

dbSNP: rs1666692498
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002227825 SCV002506964 uncertain significance Marshall syndrome; Stickler syndrome type 2; Hearing loss, autosomal dominant 37 2021-05-07 criteria provided, single submitter clinical testing The inherited c.1351-1G>A variant identified in the COL11A1 gene substitutes a Thymine for Cytosine at the -1 canonical splice position within intron 10/66. This variant is absent from gnomAD(v3.1.1) suggesting it is not a common benign variant in the populations represented in that database. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. The inherited c.1351-1G>A variant identified in the COL11A1 gene is reported as Variant of Uncertain Significance.

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