ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.2257C>G (p.Pro753Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003092725 SCV003477267 likely benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004073099 SCV003740268 uncertain significance not specified 2022-10-25 criteria provided, single submitter clinical testing The c.2257C>G (p.P753A) alteration is located in exon 17 (coding exon 17) of the FBN3 gene. This alteration results from a C to G substitution at nucleotide position 2257, causing the proline (P) at amino acid position 753 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003943779 SCV004762533 likely benign FBN3-related disorder 2021-09-11 criteria provided, single submitter 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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