ClinVar Miner

Submissions for variant NM_032802.4(SPPL2A):c.374G>A (p.Gly125Asp)

gnomAD frequency: 0.00003  dbSNP: rs376767094
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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 RCV001957530 SCV002205046 uncertain significance not provided 2023-11-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 125 of the SPPL2A protein (p.Gly125Asp). This variant is present in population databases (rs376767094, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with SPPL2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1425922). 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 tolerated. 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.
Breakthrough Genomics, Breakthrough Genomics RCV001957530 SCV005193808 uncertain significance not provided criteria provided, single submitter not provided

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