ClinVar Miner

Submissions for variant NM_032802.4(SPPL2A):c.235C>T (p.Pro79Ser)

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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 RCV003571054 SCV004316248 uncertain significance not provided 2023-08-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 79 of the SPPL2A protein (p.Pro79Ser). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with SPPL2A-related conditions. This variant is present in population databases (rs775631091, gnomAD 0.003%).

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