ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.4255A>G (p.Ile1419Val)

gnomAD frequency: 0.00001  dbSNP: rs76419381
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000363984 SCV000384186 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Fulgent Genetics, Fulgent Genetics RCV002487377 SCV002793421 uncertain significance Isolated cryptophthalmia; Fraser syndrome 2 2024-02-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021572 SCV004871647 uncertain significance Inborn genetic diseases 2023-10-20 criteria provided, single submitter clinical testing The c.4255A>G (p.I1419V) alteration is located in exon 1 (coding exon 1) of the FREM2 gene. This alteration results from a A to G substitution at nucleotide position 4255, causing the isoleucine (I) at amino acid position 1419 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV002487377 SCV006054634 uncertain significance Isolated cryptophthalmia; Fraser syndrome 2 2021-07-30 criteria provided, single submitter research

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