ClinVar Miner

Submissions for variant NM_006947.4(SRP72):c.1159+6A>G

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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 RCV003813791 SCV004612526 uncertain significance not provided 2023-07-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SRP72-related conditions. This variant is present in population databases (rs543279107, gnomAD 0.01%). This sequence change falls in intron 11 of the SRP72 gene. It does not directly change the encoded amino acid sequence of the SRP72 protein. It affects a nucleotide within the consensus splice site. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 RCV003893419 SCV004710436 likely benign SRP72-related disorder 2023-02-02 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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