ClinVar Miner

Submissions for variant NM_000229.2(LCAT):c.13G>A (p.Gly5Ser)

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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 RCV002676247 SCV002984201 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 5 of the LCAT protein (p.Gly5Ser). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with LCAT-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004066859 SCV003878077 uncertain significance Cardiovascular phenotype 2023-02-23 criteria provided, single submitter clinical testing The c.13G>A (p.G5S) alteration is located in exon 1 (coding exon 1) of the LCAT gene. This alteration results from a G to A substitution at nucleotide position 13, causing the glycine (G) at amino acid position 5 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005019324 SCV005644325 uncertain significance Fish-eye disease; Norum disease 2024-02-23 criteria provided, single submitter clinical testing

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