ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.11302C>T (p.Arg3768Cys)

gnomAD frequency: 0.00007  dbSNP: rs750736066
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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 RCV000280709 SCV000451333 uncertain significance Fraser syndrome 1 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 RCV000280709 SCV002814256 uncertain significance Fraser syndrome 1 2022-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258788 SCV003971536 uncertain significance Inborn genetic diseases 2023-04-12 criteria provided, single submitter clinical testing The c.11302C>T (p.R3768C) alteration is located in exon 73 (coding exon 73) of the FRAS1 gene. This alteration results from a C to T substitution at nucleotide position 11302, causing the arginine (R) at amino acid position 3768 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand RCV000280709 SCV001335497 uncertain significance Fraser syndrome 1 2018-09-14 no assertion criteria provided clinical testing

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