ClinVar Miner

Submissions for variant NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys)

gnomAD frequency: 0.00003  dbSNP: rs370001536
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508195 SCV000605429 uncertain significance not specified 2017-04-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764825 SCV000895976 uncertain significance Autosomal recessive nonsyndromic hearing loss 79 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000508195 SCV000966779 uncertain significance not specified 2019-01-04 criteria provided, single submitter clinical testing The p.Glu646Lys variant in TPRN has not been previously reported in individuals with hearing loss but has been identified in 0.02% (3/17194) of East Asian chrom osomes by gnomAD (http://gnomad.broadinstitute.org). This variant has also been reported in ClinVar (Variation ID 440352). Computational prediction tools and co nservation analysis do not provide strong support for or against an impact to th e protein. In summary, the clinical significance of the p.Glu646Lys variant is u ncertain. ACMG/AMP Criteria applied: PM2_Supporting.

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