ClinVar Miner

Submissions for variant NM_015141.4(GPD1L):c.838G>A (p.Ala280Thr)

gnomAD frequency: 0.00002  dbSNP: rs764691105
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000798258 SCV000937863 uncertain significance Brugada syndrome 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 280 of the GPD1L protein (p.Ala280Thr). This variant is present in population databases (rs764691105, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of GPD1L-related conditions (PMID: 29247119). ClinVar contains an entry for this variant (Variation ID: 644362). 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 not expected to disrupt GPD1L protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV002440654 SCV002677713 benign Cardiovascular phenotype 2023-11-22 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002477824 SCV002800147 uncertain significance Brugada syndrome 2 2021-09-17 criteria provided, single submitter clinical testing

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