ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.300+3G>A

gnomAD frequency: 0.00001  dbSNP: rs199823455
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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 RCV001221461 SCV001393509 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2021-04-11 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the GYS1 gene. It does not directly change the encoded amino acid sequence of the GYS1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs199823455, ExAC 0.03%). This variant has not been reported in the literature in individuals with GYS1-related conditions. Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. 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 RCV003938565 SCV004757514 likely benign GYS1-related disorder 2019-03-27 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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