ClinVar Miner

Submissions for variant NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs)

dbSNP: rs2139383552
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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 RCV001383305 SCV001582394 pathogenic Lysinuric protein intolerance 2022-08-04 criteria provided, single submitter clinical testing This variant disrupts a region of the SLC7A7 protein in which other variant(s) (p.Arg468*, p.Cys487Leufs*32) have been determined to be pathogenic (PMID: 10655553, 18716612). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1070969). This variant has not been reported in the literature in individuals affected with SLC7A7-related conditions. This sequence change results in a frameshift in the SLC7A7 gene (p.Ile422Serfs*95). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 90 amino acid(s) of the SLC7A7 protein and extend the protein by 4 additional amino acid residues.
Baylor Genetics RCV001383305 SCV004202524 likely pathogenic Lysinuric protein intolerance 2023-08-03 criteria provided, single submitter clinical testing

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