Submissions for variant NM_006979.3(SLC39A7):c.650T>C (p.Leu217Pro)

dbSNP: rs1170038377

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003728013	SCV004537052	likely pathogenic	not provided	2023-06-13	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. 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: 1333090). This missense change has been observed in individual(s) with clinical features of agammaglobulinemia (PMID: 30718914; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 217 of the SLC39A7 protein (p.Leu217Pro).
OMIM	RCV001810392	SCV002056128	pathogenic	Agammaglobulinemia 9, autosomal recessive	2022-01-18	no assertion criteria provided	literature only