ClinVar Miner

Submissions for variant NM_032802.4(SPPL2A):c.311C>T (p.Ala104Val)

gnomAD frequency: 0.00001  dbSNP: rs535221557
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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 RCV001965792 SCV002245411 uncertain significance not provided 2023-07-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1461316). This variant has not been reported in the literature in individuals affected with SPPL2A-related conditions. This variant is present in population databases (rs535221557, gnomAD 0.03%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 104 of the SPPL2A protein (p.Ala104Val). 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. 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.

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