ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3683G>T (p.Gly1228Val) (rs1555302449)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657973 SCV000779744 likely pathogenic not provided 2018-05-16 criteria provided, single submitter clinical testing The G1228V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G1228V variant is not observed in large population cohorts (Lek et al., 2016). The G1228V variant impacts a glycine residue in the collagenous domain between exons 24 and 49 where most published pathogenic variants in COL4A1 are reported (Plaisier and Ronco, 2016). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret G1228V as a likely pathogenic variant.

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