ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.467C>T (p.Ala156Val) (rs201036248)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658627 SCV000780409 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000658627 SCV000252288 uncertain significance not provided 2018-05-04 criteria provided, single submitter clinical testing A variant of unknown significance has been identified in the SLC37A4 gene. The c.467 C>T (p.A156V) sequence change has been published in association with glycogen storage disease in an individual who harbored a p.P191R missense change on the same SLC37A4 allele (in cis) as c.467 C>T (p.A156V) and who also harbored a third missense change; it was not determined whether the third missense change was on the same or the opposite allele (Wang et al., 2013). The p.A156V variant is a conservative amino acid substitution as both Alanine and Valine are uncharged, non-polar amino acids. Both Alanine and Valine are seen at this position in other species. In-silico analyses are not consistent in their predictions of whether or not p.A156V is damaging to the SLC37A4 protein. In-silico splice prediction models predict that the c.467 C>T nucleotide substitution, responsible for p.A156V, creates a cryptic splice site, which would be predicted to lead to abnormal gene splicing. However the true effect of c.467 C>T on splicing in vivo is not known. Therefore, based on the currently available information, it is unclear whether c.467 C>T (p.A156V) is a disease-causing mutation or a rare benign variant.
Invitae RCV000634552 SCV000755872 benign Glucose-6-phosphate transport defect 2017-09-29 criteria provided, single submitter clinical testing

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