ClinVar Miner

Submissions for variant NM_001379081.2(FREM1):c.3094G>A (p.Val1032Met)

gnomAD frequency: 0.00004  dbSNP: rs544959201
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001948413 SCV002201568 uncertain significance not provided 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 1032 of the FREM1 protein (p.Val1032Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs544959201, ExAC 0.08%). This variant has not been reported in the literature in individuals affected with FREM1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002560687 SCV003741948 likely benign Inborn genetic diseases 2022-05-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV005042547 SCV005677051 uncertain significance Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 2024-05-25 criteria provided, single submitter clinical testing

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