ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.1532C>A (p.Pro511His)

dbSNP: rs727503483
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 laboratory. The variant was identified in the homozygous state, segregated in an affected sibling, and was confirmed heterozygous in the unaffected parents. This variant was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied: PM2, PP1, PP3, PM3_Supporting.
King Laboratory, University of Washington RCV001808419 SCV002059895 likely pathogenic Autosomal recessive nonsyndromic hearing loss 7 2020-08-01 criteria provided, single submitter research TMC1 c.1532C>A, p.P511H alters a highly conserved residue in TMC1. The variant is compound heterozygous with TMC1 c.100C>T, p.R34* in 2 Palestinian children, one with moderate HL and the other with profound pre-lingual hearing loss (Abu Rayyan 2020). The variant is absent from 1300 Palestinian controls and absent from gnomAD v2.1.1.

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