ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.34G>C (p.Val12Leu)

dbSNP: rs74626221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246873 SCV001420264 uncertain significance Aspartylglucosaminuria 2021-08-12 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 12 of the AGA protein (p.Val12Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs74626221, ExAC 0.02%). This missense change has been observed in individual(s) with clinical features of AGA-related conditions (PMID: 11309371). ClinVar contains an entry for this variant (Variation ID: 971157). 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 leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc. RCV001246873 SCV002084897 uncertain significance Aspartylglucosaminuria 2021-07-26 no assertion criteria provided clinical testing

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