ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.2167C>T (p.Arg723Cys)

gnomAD frequency: 0.00010  dbSNP: rs145660751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998076 SCV001153953 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Invitae RCV001242837 SCV001415951 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-10-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 723 of the LAMB2 protein (p.Arg723Cys). This variant is present in population databases (rs145660751, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 809486). 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 RCV002549994 SCV003684556 uncertain significance Inborn genetic diseases 2021-09-15 criteria provided, single submitter clinical testing The c.2167C>T (p.R723C) alteration is located in exon 17 (coding exon 17) of the LAMB2 gene. This alteration results from a C to T substitution at nucleotide position 2167, causing the arginine (R) at amino acid position 723 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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