ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.119T>G (p.Leu40Arg) (rs1567441193)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000785887 SCV000924460 uncertain significance Meckel syndrome, type 11 2018-06-15 criteria provided, single submitter research The homozygous p.Trp37Gly variant was identified by our study in one individual with Meckel syndrome. This variant was absent from large population studies. The Tryptophan (Trp) at position 37 is conserved in mammals and evolutionarily distant species, raising the possibility that a change at this position may not be tolerated. Computational prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain.

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