ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg)

dbSNP: rs138891224
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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 RCV001900286 SCV002138343 uncertain significance Duane-radial ray syndrome 2024-01-20 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 993 of the SALL4 protein (p.Gly993Arg). This variant is present in population databases (rs138891224, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SALL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1373144). 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 disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002506935 SCV002816458 uncertain significance Duane-radial ray syndrome; Oculootoradial syndrome 2022-04-23 criteria provided, single submitter clinical testing

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