ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.3080T>G (p.Val1027Gly)

gnomAD frequency: 0.00004  dbSNP: rs373111608
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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 RCV001209688 SCV001381134 uncertain significance Duane-radial ray syndrome 2019-10-01 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SALL4-related conditions. This variant is present in population databases (rs373111608, ExAC 0.001%). This sequence change replaces valine with glycine at codon 1027 of the SALL4 protein (p.Val1027Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine.
Fulgent Genetics, Fulgent Genetics RCV002491639 SCV002783381 uncertain significance Duane-radial ray syndrome; Oculootoradial syndrome 2022-03-02 criteria provided, single submitter clinical testing

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