ClinVar Miner

Submissions for variant NM_018368.4(LMBRD1):c.1286A>G (p.Tyr429Cys)

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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 RCV002975204 SCV003279611 uncertain significance Methylmalonic aciduria and homocystinuria type cblF 2022-04-20 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 429 of the LMBRD1 protein (p.Tyr429Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with LMBRD1-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 RCV002975203 SCV003739866 uncertain significance Inborn genetic diseases 2021-06-30 criteria provided, single submitter clinical testing The c.1286A>G (p.Y429C) alteration is located in exon 13 (coding exon 13) of the LMBRD1 gene. This alteration results from a A to G substitution at nucleotide position 1286, causing the tyrosine (Y) at amino acid position 429 to be replaced by a cysteine (C). The in silico prediction for the p.Y429C alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004774767 SCV005383714 uncertain significance not provided 2023-12-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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