ClinVar Miner

Submissions for variant NM_000341.4(SLC3A1):c.1431_1434dup (p.Tyr479fs)

dbSNP: rs2465972753
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Synlab MVZ Humangenetik Freiburg RCV003330373 SCV004037473 pathogenic Cystinuria 2023-06-22 no assertion criteria provided clinical testing The SLC3A1 variant c.1431_1434dupAACT, p.(Tyr479Asnfs*19), has not yet been described, but it is known that "loss-of-function" is a known pathomechanism in the SLC3A1 gene, e.g., c.1754_1755delAG, p.(Glu585Alafs*24) (Gaildrat et al. 2017 and HGMD Professional 2023.1, among others). The variant is not listed in control databases (dbSNP, gnomAD v2.1.1). It is a reading frame mutation that leads to premature translational arrest and thus either loss of function of the affected allele due to premature degradation of the mutant mRNA or to a truncated protein with reduced or aberrant function. We classify the SLC3A1 variant c.1431_1434dupAACT, p.(Tyr479Asnfs*19), as pathogenic.

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