ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.4133T>A (p.Leu1378Gln)

dbSNP: rs2136505985
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001787271 SCV002029103 likely pathogenic Spondyloepiphyseal dysplasia congenita 2021-12-04 criteria provided, single submitter clinical testing We decided to re-evaluate clinical significance of the variant. Clinical phenotype of the patient is highly specific to the type 2 collagenopathies group of diseases. However,this variant localized in C-propeptide domain. Various predictive programs put a criterion PM1, believing that this is a well-studied domain. However, studies published to date indicate that further research is required, because pathogenic variants in this domain occur much less frequently than in the triple helix domain. Therefore, we removed the criteria PM1 and PP2, due to insufficient knowledge of this domain. Our updated criteria: PS2, PM2, PP3, PP4 according to ACMG it is interpreted like "Likely pathogenic"

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