ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.595G>T (p.Ala199Ser)

gnomAD frequency: 0.00134  dbSNP: rs151296346
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872372 SCV001014172 likely benign not provided 2024-12-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111820 SCV001269421 likely benign Fraser syndrome 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000872372 SCV005078605 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Identified in the presence of a second FREM2 variant in an individual with focal and segmental glomerulosclerosis (PMID: 31308072); This variant is associated with the following publications: (PMID: 31308072)
PreventionGenetics, part of Exact Sciences RCV003908282 SCV004718901 likely benign FREM2-related disorder 2023-05-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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