ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1652del (p.Pro551fs)

dbSNP: rs1060500199
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464302 SCV000541805 pathogenic Ehlers-Danlos syndrome, type 4 2021-09-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in COL3A1 are known to be pathogenic (PMID: 24922459). This sequence change deletes 1 nucleotide from exon 23 of the COL3A1 mRNA (c.1652delC), causing a frameshift at codon 551. This creates a premature translational stop signal (p.Pro551Glnfs*240) and is expected to result in an absent or disrupted protein product.
GeneDx RCV001662417 SCV001875295 pathogenic not provided 2022-05-19 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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