ClinVar Miner

Submissions for variant NM_006979.3(SLC39A7):c.568C>G (p.Pro190Ala)

gnomAD frequency: 0.00002  dbSNP: rs563866464
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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 RCV002040268 SCV002301430 likely pathogenic not provided 2023-06-04 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects SLC39A7 function (PMID: 30718914). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1507871). This missense change has been observed in individuals with agammaglobulinemia (PMID: 30718914). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs563866464, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 190 of the SLC39A7 protein (p.Pro190Ala).
OMIM RCV002271714 SCV002056126 pathogenic Agammaglobulinemia 9, autosomal recessive 2022-01-18 no assertion criteria provided literature only

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