ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2144A>T (p.Tyr715Phe)

dbSNP: rs1569519563
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767893 SCV000898522 uncertain significance Developmental and epileptic encephalopathy, 36 2021-03-30 criteria provided, single submitter clinical testing ALG13 NM_001099922 exon 18 p.Tyr715Phe (c.2144A>T): This variant has not been reported in the literature and is not present in large control databases. This variant Phenylalanine (Phe) is present in 9 other species, including mammals; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000767893 SCV002989009 uncertain significance Developmental and epileptic encephalopathy, 36 2022-05-21 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 625887). This variant has not been reported in the literature in individuals affected with ALG13-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 715 of the ALG13 protein (p.Tyr715Phe).

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