ClinVar Miner

Submissions for variant NM_001161748.2(LIM2):c.356A>G (p.Tyr119Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002598972 SCV003490942 uncertain significance Cataract 19 multiple types 2023-02-04 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 161 of the LIM2 protein (p.Tyr161Cys). This variant is present in population databases (rs769161247, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with LIM2-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 disruptive. 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 RCV004634177 SCV005133407 uncertain significance Inborn genetic diseases 2024-04-09 criteria provided, single submitter clinical testing The c.482A>G (p.Y161C) alteration is located in exon 4 (coding exon 3) of the LIM2 gene. This alteration results from a A to G substitution at nucleotide position 482, causing the tyrosine (Y) at amino acid position 161 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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