ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.38G>A (p.Arg13Gln)

gnomAD frequency: 0.00004  dbSNP: rs765718616
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000296636 SCV000339801 uncertain significance not provided 2016-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763896 SCV000894831 uncertain significance Fraser syndrome 2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000296636 SCV003784478 uncertain significance not provided 2022-04-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 13 of the FREM2 protein (p.Arg13Gln). This variant is present in population databases (rs765718616, 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 FREM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 286386). 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 tolerated. 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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