ClinVar Miner

Submissions for variant NM_001394372.1(BICRA):c.656A>G (p.Asn219Ser)

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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 RCV004335111 SCV004054332 uncertain significance not specified 2023-08-02 criteria provided, single submitter clinical testing The c.656A>G (p.N219S) alteration is located in exon 6 (coding exon 4) of the GLTSCR1 gene. This alteration results from a A to G substitution at nucleotide position 656, causing the asparagine (N) at amino acid position 219 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003919063 SCV004743139 likely benign BICRA-related disorder 2022-07-08 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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