ClinVar Miner

Submissions for variant NM_001377295.2(GNAT2):c.1057C>T (p.Leu353Phe)

gnomAD frequency: 0.00009  dbSNP: rs61754627
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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 RCV001212260 SCV001383840 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 353 of the GNAT2 protein (p.Leu353Phe). This variant is present in population databases (rs61754627, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with GNAT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 942299). 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 GNAT2 protein function with a positive 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 RCV003259156 SCV003983714 uncertain significance Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing The c.1057C>T (p.L353F) alteration is located in exon 8 (coding exon 8) of the GNAT2 gene. This alteration results from a C to T substitution at nucleotide position 1057, causing the leucine (L) at amino acid position 353 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003346371 SCV004050183 uncertain significance Achromatopsia 4 2023-04-11 criteria provided, single submitter clinical testing

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