ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.12G>A (p.Ala4=)

dbSNP: rs1335428636
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002006639 SCV002293144 uncertain significance Alacrima, achalasia, and intellectual disability syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change affects codon 4 of the GMPPA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GMPPA protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GMPPA-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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