ClinVar Miner

Submissions for variant NM_182548.4(LHFPL5):c.89dup (p.Thr31fs)

dbSNP: rs756030149
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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, Mass General Brigham Personalized Medicine RCV000826115 SCV000967623 likely pathogenic Rare genetic deafness 2018-04-17 criteria provided, single submitter clinical testing The p.Thr31fs was identified in the homozygous state one individual from a consa nguineous family with sensorineural hearing loss and segregated with disease in 3 affected relatives (Bensaid 2011). It was also identified in 1/111712 of Europ ean chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadi nstitute.org; dbSNP rs756030149). This variant is predicted to cause a frameshif t, which alters the protein?s amino acid sequence beginning at position 31 and l eads to a premature termination codon 41 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, althoug h additional studies are required to fully establish its clinical significance, the p.Thr31fs variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1_Stro ng; PP1; PM2.

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