ClinVar Miner

Submissions for variant NM_000341.4(SLC3A1):c.1820del (p.Leu607fs)

dbSNP: rs761211666
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003152900 SCV003841419 likely pathogenic Cystinuria 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). This variant was predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%. The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (PMID: 10620184). The variant has been reported to be associated with SLC3A1 related disorder (PMID: 10620184). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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