ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.349C>A (p.Pro117Thr)

dbSNP: rs1559052973
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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 RCV000806472 SCV000946475 uncertain significance Ehlers-Danlos syndrome, type 4 2020-11-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with COL3A1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 117 of the COL3A1 protein (p.Pro117Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine.
GeneDx RCV001759543 SCV001996378 uncertain significance not provided 2024-05-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD)

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