ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.1311T>G (p.Phe437Leu)

dbSNP: rs1591064625
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027781 SCV001190388 uncertain significance Cutis laxa, autosomal recessive, type 1B 2021-03-30 criteria provided, single submitter clinical testing EFEMP2 NM_016938.4 exon 11 p.Phe437Leu (c.1311T>G): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. Splice prediction tools suggest that this variant may affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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