ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.139C>T (p.Arg47Cys)

gnomAD frequency: 0.00003  dbSNP: rs766701277
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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 RCV000820896 SCV000961631 uncertain significance Ehlers-Danlos syndrome, spondylocheirodysplastic type 2022-07-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 47 of the SLC39A13 protein (p.Arg47Cys). This variant is present in population databases (rs766701277, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SLC39A13-related conditions. ClinVar contains an entry for this variant (Variation ID: 663097). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279551 SCV002566076 uncertain significance Ehlers-Danlos syndrome 2019-12-01 criteria provided, single submitter clinical testing

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