ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1106G>T (p.Gly369Val) (rs1057521930)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781311 SCV000919237 likely pathogenic Familial aortopathy 2017-11-13 criteria provided, single submitter clinical testing Variant summary: The COL3A1 c.1106G>T (p.Gly369Val) variant involves the alteration of a conserved nucleotide located in the Collagen triple helix repeat(IPR008160) (InterPro) affecting a critical glycine. 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 171136 control chromosomes in gnomAD. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.

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