ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.119C>T (p.Ala40Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004968721 SCV005500979 uncertain significance Inborn genetic diseases 2024-08-27 criteria provided, single submitter clinical testing The c.119C>T (p.A40V) alteration is located in exon 1 (coding exon 1) of the SALL4 gene. This alteration results from a C to T substitution at nucleotide position 119, causing the alanine (A) at amino acid position 40 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023740 SCV005658965 uncertain significance Duane-radial ray syndrome; Oculootoradial syndrome 2024-01-04 criteria provided, single submitter clinical testing

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