ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.637_640dup (p.Trp214fs)

gnomAD frequency: 0.00007  dbSNP: rs745806762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002247153 SCV002520022 likely pathogenic not provided 2021-08-16 criteria provided, single submitter clinical testing PM2, PVS1
Labcorp Genetics (formerly Invitae), Labcorp RCV003741295 SCV004559437 pathogenic Alacrima, achalasia, and intellectual disability syndrome 2023-07-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1686640). This variant has not been reported in the literature in individuals affected with GMPPA-related conditions. This variant is present in population databases (rs745806762, gnomAD 0.04%). This sequence change creates a premature translational stop signal (p.Trp214Phefs*30) in the GMPPA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GMPPA are known to be pathogenic (PMID: 24035193).

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