ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.2260G>A (p.Val754Met)

gnomAD frequency: 0.00021  dbSNP: rs199607966
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001964988 SCV002211125 uncertain significance Duane-radial ray syndrome 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 754 of the SALL4 protein (p.Val754Met). This variant is present in population databases (rs199607966, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features SALL4-related conditions (PMID: 12789647). This variant is also known as V752M. ClinVar contains an entry for this variant (Variation ID: 1437608). 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.
Revvity Omics, Revvity RCV003136342 SCV003820641 uncertain significance not provided 2021-08-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005397175 SCV006058607 likely benign Duane-radial ray syndrome; Oculootoradial syndrome 2021-08-03 criteria provided, single submitter research

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