ClinVar Miner

Submissions for variant NM_015141.4(GPD1L):c.671A>G (p.Asn224Ser)

gnomAD frequency: 0.00001  dbSNP: rs1332344958
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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 RCV001302438 SCV001491647 uncertain significance Brugada syndrome 2022-10-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GPD1L-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 224 of the GPD1L protein (p.Asn224Ser). ClinVar contains an entry for this variant (Variation ID: 1005549). 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 not expected to disrupt GPD1L protein function.
Ambry Genetics RCV002366139 SCV002665037 uncertain significance Cardiovascular phenotype 2023-02-28 criteria provided, single submitter clinical testing The p.N224S variant (also known as c.671A>G), located in coding exon 6 of the GPD1L gene, results from an A to G substitution at nucleotide position 671. The asparagine at codon 224 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003127771 SCV003803417 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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