ClinVar Miner

Submissions for variant NM_001257180.2(SLC20A2):c.617_618dup (p.Gly207fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003017950 SCV003305081 pathogenic not provided 2022-11-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SLC20A2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly207Serfs*10) in the SLC20A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC20A2 are known to be pathogenic (PMID: 23334463).

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