ClinVar Miner

Submissions for variant NM_001394372.1(BICRA):c.4354G>A (p.Ala1452Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004369836 SCV004914307 uncertain significance not specified 2022-07-06 criteria provided, single submitter clinical testing The c.4354G>A (p.A1452T) alteration is located in exon 15 (coding exon 13) of the GLTSCR1 gene. This alteration results from a G to A substitution at nucleotide position 4354, causing the alanine (A) at amino acid position 1452 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003949796 SCV004763687 likely benign BICRA-related disorder 2022-01-13 no assertion criteria provided 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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