ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1402G>C (p.Ala468Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209657 SCV001381102 likely pathogenic Schimke immuno-osseous dysplasia 2019-08-11 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 468 of the SMARCAL1 protein (p.Ala468Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Schimke immuno-osseous dysplasia (PMID: 11799392, 22998683). This variant has been reported to affect SMARCAL1 protein function (PMID: 18805831, 26195148). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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