ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)

dbSNP: rs1024137874
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733480 SCV000861556 pathogenic not provided 2018-06-08 criteria provided, single submitter clinical testing
Invitae RCV000814905 SCV000955342 pathogenic Glycogen storage disease, type II 2022-05-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 597382). This missense change has been observed in individual(s) with Pompe disease (PMID: 28763149, 23787031, 31086307, 31193175). It is often observed on the same chromosome as c.1642G>T (p.Val548Phe). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 627 of the GAA protein (p.Ser627Phe).
Genome-Nilou Lab RCV000814905 SCV001810634 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000733480 SCV002025209 likely pathogenic not provided 2023-10-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000814905 SCV004197852 likely pathogenic Glycogen storage disease, type II 2023-03-29 criteria provided, single submitter clinical testing

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