ClinVar Miner

Submissions for variant NM_015141.4(GPD1L):c.400A>T (p.Ile134Phe)

gnomAD frequency: 0.00001  dbSNP: rs747897359
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002357839 SCV002622138 uncertain significance Cardiovascular phenotype 2021-02-05 criteria provided, single submitter clinical testing The p.I134F variant (also known as c.400A>T), located in coding exon 4 of the GPD1L gene, results from an A to T substitution at nucleotide position 400. The isoleucine at codon 134 is replaced by phenylalanine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003775792 SCV004686785 uncertain significance Brugada syndrome 2024-12-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 134 of the GPD1L protein (p.Ile134Phe). This variant is present in population databases (rs747897359, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GPD1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 1736995). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.
GeneDx RCV004779297 SCV005388328 uncertain significance not provided 2024-03-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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