ClinVar Miner

Submissions for variant NM_145117.5(NAV2):c.2500C>T (p.Arg834Trp)

gnomAD frequency: 0.00018  dbSNP: rs144875196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004021051 SCV003714246 uncertain significance not specified 2021-10-19 criteria provided, single submitter clinical testing The c.2500C>T (p.R834W) alteration is located in exon 10 (coding exon 10) of the NAV2 gene. This alteration results from a C to T substitution at nucleotide position 2500, causing the arginine (R) at amino acid position 834 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genetics, Erasmus University Medical Center RCV000508683 SCV000328911 uncertain significance Hirschsprung disease, susceptibility to, 1 2016-11-18 no assertion criteria provided clinical testing

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