ClinVar Miner

Submissions for variant NM_032242.4(PLXNA1):c.1358G>T (p.Arg453Leu)

dbSNP: rs149382163
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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 RCV001877128 SCV002133183 uncertain significance not provided 2021-09-28 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with PLXNA1-related conditions. This variant is present in population databases (rs149382163, ExAC 0.04%). This sequence change replaces arginine with leucine at codon 453 of the PLXNA1 protein (p.Arg453Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine.
Ambry Genetics RCV004040498 SCV003572834 uncertain significance not specified 2021-08-13 criteria provided, single submitter clinical testing The c.1358G>T (p.R453L) alteration is located in exon 2 (coding exon 2) of the PLXNA1 gene. This alteration results from a G to T substitution at nucleotide position 1358, causing the arginine (R) at amino acid position 453 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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