ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.6852G>T (p.Lys2284Asn)

gnomAD frequency: 0.00001  dbSNP: rs772357847
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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 RCV001959349 SCV002253891 uncertain significance not provided 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 2284 of the FREM2 protein (p.Lys2284Asn). This variant is present in population databases (rs772357847, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected 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: "Benign"; 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 RCV002492163 SCV002783508 uncertain significance Isolated cryptophthalmia; Fraser syndrome 2 2022-04-14 criteria provided, single submitter clinical testing

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