ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.1168C>T (p.Arg390Ter)

dbSNP: rs748973371
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002643101 SCV002987838 uncertain significance Alacrima, achalasia, and intellectual disability syndrome 2022-06-28 criteria provided, single submitter clinical testing 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. This variant disrupts a region of the GMPPA protein in which other variant(s) (p.Asn401Thr) have been observed in individuals with GMPPA-related conditions (PMID: 24035193). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with GMPPA-related conditions. This variant is present in population databases (rs748973371, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg390*) in the GMPPA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acid(s) of the GMPPA protein.

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