ClinVar Miner

Submissions for variant NM_024666.5(AAGAB):c.415G>A (p.Val139Ile)

gnomAD frequency: 0.00038  dbSNP: rs138601241
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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 RCV002011723 SCV002301460 uncertain significance not provided 2024-10-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 139 of the AAGAB protein (p.Val139Ile). This variant is present in population databases (rs138601241, gnomAD 0.3%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with punctate palmoplantar keratoderma (PMID: 26608363). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1510379). 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.
Fulgent Genetics, Fulgent Genetics RCV002507795 SCV002815594 uncertain significance Palmoplantar keratoderma, punctate type 1A 2022-01-14 criteria provided, single submitter clinical testing
Dr.Nikuei Genetic Center RCV002507795 SCV005200307 likely benign Palmoplantar keratoderma, punctate type 1A 2024-06-21 criteria provided, single submitter clinical testing

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