ClinVar Miner

Submissions for variant NM_130849.4(SLC39A4):c.947_948dup (p.Val317fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Dr. Eberhard & Partner Dortmund RCV002465966 SCV002760211 likely pathogenic not provided 2022-11-04 criteria provided, single submitter clinical testing The variant c.947_948dup likely produces a premature stop codon, thus leading to a null variant . It is also not present in population databases.
Labcorp Genetics (formerly Invitae), Labcorp RCV002465966 SCV004633205 pathogenic not provided 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val317Profs*33) in the SLC39A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC39A4 are known to be pathogenic (PMID: 12955721). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC39A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1802688). For these reasons, this variant has been classified as Pathogenic.

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