ClinVar Miner

Submissions for variant NM_014112.5(TRPS1):c.2194C>T (p.Gln732Ter)

dbSNP: rs2130445786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546868 SCV001766465 pathogenic not provided 2022-12-23 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); Also known as Q719X; This variant is associated with the following publications: (PMID: 25525159, 11112658)
Labcorp Genetics (formerly Invitae), Labcorp RCV002570673 SCV003440767 pathogenic Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 2024-03-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln732*) in the TRPS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRPS1 are known to be pathogenic (PMID: 11112658). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with trichorhinophalangeal syndrome (PMID: 11112658). This variant is also known as 2155C>T (p.Q719X). ClinVar contains an entry for this variant (Variation ID: 1187428). For these reasons, this variant has been classified as Pathogenic.

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