ClinVar Miner

Submissions for variant NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) (rs142968179)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000030764 SCV001233664 pathogenic Leber congenital amaurosis 9 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 207 of the NMNAT1 protein (p.Arg207Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs142968179, ExAC 0.003%). This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 22842229, 24940029, 22842230). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 37133). This variant has been reported to affect NMNAT1 protein function (PMID: 26018082, 22842230). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090803 SCV001246533 pathogenic not provided 2019-12-01 criteria provided, single submitter clinical testing
OMIM RCV000030764 SCV000053425 pathogenic Leber congenital amaurosis 9 2012-09-01 no assertion criteria provided literature only

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