ClinVar Miner

Submissions for variant NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser)

gnomAD frequency: 0.00001  dbSNP: rs561265847
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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 RCV000704372 SCV000833318 uncertain significance Methylmalonic aciduria and homocystinuria type cblF 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 405 of the LMBRD1 protein (p.Thr405Ser). This variant is present in population databases (rs561265847, gnomAD 0.04%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with LMBRD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 580738). 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 RCV002536382 SCV003676465 uncertain significance Inborn genetic diseases 2024-01-04 criteria provided, single submitter clinical testing The c.1214C>G (p.T405S) alteration is located in exon 13 (coding exon 13) of the LMBRD1 gene. This alteration results from a C to G substitution at nucleotide position 1214, causing the threonine (T) at amino acid position 405 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000704372 SCV004040664 uncertain significance Methylmalonic aciduria and homocystinuria type cblF 2023-07-17 criteria provided, single submitter clinical testing

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