ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1444del (p.Asp482fs)

dbSNP: rs727503479
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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 RCV000152021 SCV000200594 uncertain significance not specified 2013-11-19 criteria provided, single submitter clinical testing The Asp459fs variant in TJP2 has not been previously reported in individuals wit h hearing loss or in large population studies. This frameshift variant is predic ted to alter the protein?s amino acid sequence beginning at position 459 and lea d to a premature termination codon 32 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. However, heterozygous loss of function variants in TJP2 have not been described in individuals with he aring loss and, therefore, it is uncertain if these types of variants are causat ive for hearing loss. In summary, additional data is needed to determine the cli nical significance of this variant.
Revvity Omics, Revvity RCV003133151 SCV003811676 likely pathogenic not provided 2021-12-28 criteria provided, single submitter clinical testing

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