ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.1630G>T (p.Asp544Tyr)

gnomAD frequency: 0.00002  dbSNP: rs1260720066
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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 RCV002669777 SCV003542622 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.1567G>T (p.D523Y) alteration is located in exon 6 (coding exon 6) of the NHS gene. This alteration results from a G to T substitution at nucleotide position 1567, causing the aspartic acid (D) at amino acid position 523 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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