ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.1169G>C (p.Ser390Thr)

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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 RCV003634488 SCV004397216 uncertain significance HNSHA due to aldolase A deficiency 2024-01-20 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 336 of the ALDOA protein (p.Ser336Thr). This variant is present in population databases (rs756734032, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ALDOA-related conditions. 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.

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