ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.2447G>A (p.Arg816His)

gnomAD frequency: 0.00003  dbSNP: rs747560279
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728070 SCV000855597 uncertain significance not provided 2017-07-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485853 SCV002780434 uncertain significance Duane-radial ray syndrome; Oculootoradial syndrome 2021-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958061 SCV005500980 uncertain significance Inborn genetic diseases 2024-10-20 criteria provided, single submitter clinical testing The c.2447G>A (p.R816H) alteration is located in exon 2 (coding exon 2) of the SALL4 gene. This alteration results from a G to A substitution at nucleotide position 2447, causing the arginine (R) at amino acid position 816 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005092130 SCV005820853 uncertain significance Duane-radial ray syndrome 2025-01-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 816 of the SALL4 protein (p.Arg816His). This variant is present in population databases (rs747560279, gnomAD 0.02%). 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: 593118). 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.

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