ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.8846A>T (p.Tyr2949Phe)

dbSNP: rs200212920
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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) RCV000179228 SCV000231441 uncertain significance not provided 2015-03-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001155761 SCV001317218 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 RCV001155761 SCV002814579 likely benign Fraser syndrome 1 2024-06-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002515275 SCV003670893 uncertain significance Inborn genetic diseases 2022-04-07 criteria provided, single submitter clinical testing The c.8846A>T (p.Y2949F) alteration is located in exon 59 (coding exon 59) of the FRAS1 gene. This alteration results from a A to T substitution at nucleotide position 8846, causing the tyrosine (Y) at amino acid position 2949 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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