ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.1094C>T (p.Ala365Val)

gnomAD frequency: 0.00001  dbSNP: rs768004972
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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 RCV001910547 SCV002188351 uncertain significance Cutis laxa, autosomal recessive, type 1B 2022-05-17 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This variant has not been reported in the literature in individuals affected with EFEMP2-related conditions. This variant is present in population databases (rs768004972, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 365 of the EFEMP2 protein (p.Ala365Val).

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