ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val)

gnomAD frequency: 0.00236  dbSNP: rs145035489
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000283373 SCV000332250 benign not specified 2015-06-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394472 SCV000451335 likely benign Fraser syndrome 1 2018-01-12 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.
Invitae RCV000870810 SCV001012356 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000870810 SCV004035668 uncertain significance not provided 2023-03-11 criteria provided, single submitter clinical testing Reported with unknown phase with two other FRAS1 variants in a patient with clubfoot, unilateral incomplete cleft lip, micropenis, and cryptorchidism, but this individual was also reported to have a variant in the CHD7 gene as well (Gowans et al., 2021); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33719213)

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