ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.766A>G (p.Thr256Ala)

gnomAD frequency: 0.00003  dbSNP: rs139802240
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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) RCV000277279 SCV000340319 uncertain significance not provided 2016-03-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504003 SCV002815679 uncertain significance Duane-radial ray syndrome; Oculootoradial syndrome 2022-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535370 SCV004120985 uncertain significance SALL4-related disorder 2023-05-31 criteria provided, single submitter clinical testing The SALL4 c.766A>G variant is predicted to result in the amino acid substitution p.Thr256Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-50408256-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004021209 SCV004945534 uncertain significance Inborn genetic diseases 2024-01-08 criteria provided, single submitter clinical testing The c.766A>G (p.T256A) alteration is located in exon 2 (coding exon 2) of the SALL4 gene. This alteration results from a A to G substitution at nucleotide position 766, causing the threonine (T) at amino acid position 256 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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