ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.3841C>T (p.Arg1281Cys)

gnomAD frequency: 0.00003  dbSNP: rs770353541
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003248732 SCV003944289 uncertain significance Inborn genetic diseases 2023-04-25 criteria provided, single submitter clinical testing The c.3778C>T (p.R1260C) alteration is located in exon 6 (coding exon 6) of the NHS gene. This alteration results from a C to T substitution at nucleotide position 3778, causing the arginine (R) at amino acid position 1260 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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