ClinVar Miner

Submissions for variant NM_015141.4(GPD1L):c.344C>T (p.Ala115Val)

gnomAD frequency: 0.00001  dbSNP: rs765497074
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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 RCV001302176 SCV001491371 uncertain significance Brugada syndrome 2022-10-05 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 not expected to disrupt GPD1L protein function. ClinVar contains an entry for this variant (Variation ID: 1005323). This variant has not been reported in the literature in individuals affected with GPD1L-related conditions. This variant is present in population databases (rs765497074, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 115 of the GPD1L protein (p.Ala115Val).
Ambry Genetics RCV002451675 SCV002615423 uncertain significance Cardiovascular phenotype 2024-11-18 criteria provided, single submitter clinical testing The p.A115V variant (also known as c.344C>T), located in coding exon 3 of the GPD1L gene, results from a C to T substitution at nucleotide position 344. The alanine at codon 115 is replaced by valine, an amino acid with similar properties. This amino acid position is well 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587112 SCV005076017 likely benign not specified 2024-04-29 criteria provided, single submitter clinical testing

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