ClinVar Miner

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

dbSNP: rs1693994454
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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 RCV001209657 SCV001381102 likely pathogenic Schimke immuno-osseous dysplasia 2019-08-11 criteria provided, single submitter clinical testing 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. This variant has been reported to affect SMARCAL1 protein function (PMID: 18805831, 26195148). This variant has been observed in individuals affected with Schimke immuno-osseous dysplasia (PMID: 11799392, 22998683). This variant is not present in population databases (ExAC no frequency). 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.

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