ClinVar Miner

Submissions for variant NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048869 SCV001212894 pathogenic Leber congenital amaurosis 9 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 237 of the NMNAT1 protein (p.Arg237Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs375110174, ExAC 0.02%). This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 22842227, 26316326, 22842229. It has also been observed to segregate with disease in related individuals. This variant has been reported to have conflicting or insufficient data to determine the effect on NMNAT1 protein function (PMID: 26018082, 22842227). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073738 SCV001239298 pathogenic Retinal dystrophy 2017-09-12 criteria provided, single submitter clinical testing

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