ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.620T>G (p.Ile207Ser)

gnomAD frequency: 0.00001  dbSNP: rs1196873747
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000805881 SCV000945856 uncertain significance Lipoic acid synthetase deficiency 2020-08-25 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with LIAS-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with serine at codon 207 of the LIAS protein (p.Ile207Ser). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and serine.

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