ClinVar Miner

Submissions for variant NM_000460.4(THPO):c.114del (p.Asp39fs)

dbSNP: rs768078445
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001682626 SCV001905491 uncertain significance Thrombocytopenia 2021-08-16 criteria provided, single submitter clinical testing This THPO variant (rs768078445) is rare (<0.1%) in a large population dataset (gnomAD: 1/251124 total alleles; 0.0004%; no homozygotes) and has not been reported in ClinVar nor the literature, to our knowledge. This frameshift variant in exon 3 results in a premature stop codon likely leading to nonsense-mediated decay and lack of protein production. Loss of function THPO variants have been reported in the literature in individuals with inherited thrombocytopenia, however this association has not been reported in OMIM. We consider the clinical significance of THPO c.114delT to be uncertain at this time.

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