Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000508195 | SCV000605429 | uncertain significance | not specified | 2017-04-10 | criteria provided, single submitter | clinical testing | |
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, |
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. |