ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.483_491del (p.Phe162_Ala164del)

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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 RCV000002214 SCV004294825 pathogenic Ehlers-Danlos syndrome, spondylocheirodysplastic type 2023-10-22 criteria provided, single submitter clinical testing This variant, c.483_491del, results in the deletion of 3 amino acid(s) of the SLC39A13 protein (p.Phe162_Ala164del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has been observed in individuals with spondylocheiro dysplastic Ehlers Danlos syndrome (PMID: 18513683, 32295219). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2132). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects SLC39A13 function (PMID: 25007800). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002214 SCV000022372 pathogenic Ehlers-Danlos syndrome, spondylocheirodysplastic type 2008-06-01 no assertion criteria provided literature only

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