ClinVar Miner

Submissions for variant NM_032242.4(PLXNA1):c.4694G>A (p.Arg1565His)

dbSNP: rs142147514
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002017176 SCV002291387 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1565 of the PLXNA1 protein (p.Arg1565His). This variant is present in population databases (rs142147514, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PLXNA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1501057). 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: "Probably 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.
Ambry Genetics RCV004045999 SCV003690613 uncertain significance not specified 2022-11-18 criteria provided, single submitter clinical testing The c.4694G>A (p.R1565H) alteration is located in exon 25 (coding exon 25) of the PLXNA1 gene. This alteration results from a G to A substitution at nucleotide position 4694, causing the arginine (R) at amino acid position 1565 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003978456 SCV004793915 uncertain significance PLXNA1-related disorder 2024-02-13 no assertion criteria provided clinical testing The PLXNA1 c.4694G>A variant is predicted to result in the amino acid substitution p.Arg1565His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.039% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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