ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.7103A>T (p.Asp2368Val)

gnomAD frequency: 0.00006  dbSNP: rs760834204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001996309 SCV002284630 uncertain significance not provided 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 2368 of the FREM2 protein (p.Asp2368Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is present in population databases (rs760834204, ExAC 0.05%). This variant has not been reported in the literature in individuals with FREM2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002486611 SCV002803247 uncertain significance Isolated cryptophthalmia; Fraser syndrome 2 2021-11-05 criteria provided, single submitter clinical testing

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