ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.826A>G (p.Asn276Asp)

gnomAD frequency: 0.00026  dbSNP: rs200898675
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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 RCV001940517 SCV002193490 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 276 of the FREM2 protein (p.Asn276Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs200898675, ExAC 0.2%). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002491906 SCV002784873 uncertain significance Isolated cryptophthalmia; Fraser syndrome 2 2022-04-06 criteria provided, single submitter clinical testing

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