ClinVar Miner

Submissions for variant NM_022787.4(NMNAT1):c.752A>C (p.His251Pro)

dbSNP: rs1208495291
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001256667 SCV003522718 uncertain significance Leber congenital amaurosis 9 2022-01-16 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 251 of the NMNAT1 protein (p.His251Pro). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with Leber congenital amaurosis (PMID: 22842229). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 978262). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001256667 SCV001433044 likely pathogenic Leber congenital amaurosis 9 no assertion criteria provided research

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