ClinVar Miner

Submissions for variant NM_006080.3(SEMA3A):c.1623A>G (p.Ala541=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003726197 SCV004525156 uncertain significance not provided 2023-01-12 criteria provided, single submitter clinical testing This sequence change affects codon 541 of the SEMA3A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SEMA3A protein. This variant is present in population databases (rs369709964, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SEMA3A-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV004750423 SCV005347722 likely benign SEMA3A-related disorder 2021-11-19 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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