ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1532C>A (p.Pro511His) (rs727503483)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152038 SCV000200624 uncertain significance not specified 2019-01-23 criteria provided, single submitter clinical testing The p.Pro511His variant has been reported in 1 Libyan individual by our laborato ry. The variant was identified in the homozygous state, segregated in an affecte d sibling, and was confirmed heterozygous in the unaffected parents. This varian t was absent from large population studies. Computational prediction tools and c onservation analysis suggest that this variant may impact the protein, though th is information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applie d: PM2, PP1, PP3, PM3_Supporting.

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