ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.106C>G (p.Leu36Val)

gnomAD frequency: 0.00001  dbSNP: rs749918422
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525363 SCV000655096 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2017-02-07 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is present in population databases (rs749918422, ExAC 0.002%) but has not been reported in the literature in individuals with a AMPD2-related disease. This sequence change replaces leucine with valine at codon 90 of the AMPD2 protein (p.Leu90Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine.

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