ClinVar Miner

Submissions for variant NM_015973.5(GAL):c.166G>A (p.Asp56Asn)

gnomAD frequency: 0.00010  dbSNP: rs149894151
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798288 SCV000937895 uncertain significance Familial temporal lobe epilepsy 8 2022-07-26 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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. ClinVar contains an entry for this variant (Variation ID: 644385). This variant has not been reported in the literature in individuals affected with GAL-related conditions. This variant is present in population databases (rs149894151, gnomAD 0.03%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 56 of the GAL protein (p.Asp56Asn).

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