ClinVar Miner

Submissions for variant NM_183381.3(RNF13):c.1045A>G (p.Thr349Ala)

gnomAD frequency: 0.00001  dbSNP: rs972002974
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001420529 SCV001622832 uncertain significance Developmental and epileptic encephalopathy, 73 2020-07-27 criteria provided, single submitter clinical testing
Invitae RCV002554087 SCV003030321 uncertain significance not provided 2023-05-27 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1098594). This variant has not been reported in the literature in individuals affected with RNF13-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 349 of the RNF13 protein (p.Thr349Ala).

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