ClinVar Miner

Submissions for variant NM_001253697.2(ERBIN):c.2525A>T (p.Asp842Val)

gnomAD frequency: 0.00018  dbSNP: rs148176113
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002039665 SCV002110912 uncertain significance not provided 2024-12-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 842 of the ERBIN protein (p.Asp842Val). This variant is present in population databases (rs148176113, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with ERBIN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1350328). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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