ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.3560G>A (p.Cys1187Tyr)

dbSNP: rs760892618
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049890 SCV001213964 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-06-04 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 846560). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. This variant is present in population databases (rs760892618, gnomAD 0.003%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 1187 of the LAMB2 protein (p.Cys1187Tyr).

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