ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.80C>A (p.Thr27Asn)

gnomAD frequency: 0.00007  dbSNP: rs576315457
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003007140 SCV002402046 likely benign Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2024-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004612140 SCV005105680 uncertain significance Inborn genetic diseases 2024-05-02 criteria provided, single submitter clinical testing The c.80C>A (p.T27N) alteration is located in exon 4 (coding exon 2) of the CTNS gene. This alteration results from a C to A substitution at nucleotide position 80, causing the threonine (T) at amino acid position 27 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005095666 SCV005641894 uncertain significance Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2024-04-20 criteria provided, single submitter clinical testing

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