ClinVar Miner

Submissions for variant NM_015426.5(POC1A):c.729C>G (p.Tyr243Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003547708 SCV004263745 pathogenic not provided 2023-06-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr243*) in the POC1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POC1A are known to be pathogenic (PMID: 22840364, 26336158, 26374189). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POC1A-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005030078 SCV005662615 likely pathogenic Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 2024-01-31 criteria provided, single submitter clinical testing

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