ClinVar Miner

Submissions for variant NM_001024630.4(RUNX2):c.407T>C (p.Leu136Pro)

dbSNP: rs2150362661
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384067 SCV001583446 pathogenic not provided 2022-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 136 of the RUNX2 protein (p.Leu136Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with cleidocranial dysplasia (PMID: 18166138). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1071562). 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: "Possibly Damaging"; Align-GVGD: "Class C0").

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