ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1240T>C (p.Phe414Leu)

dbSNP: rs886042630
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000304646 SCV000335545 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
Invitae RCV001855124 SCV002115684 uncertain significance Glycogen storage disease, type II 2022-07-12 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GAA protein function. ClinVar contains an entry for this variant (Variation ID: 283455). This missense change has been observed in individual(s) with late onset Pompe disease (PMID: 30564623, 31342611). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 414 of the GAA protein (p.Phe414Leu).

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