ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.1621G>T (p.Val541Leu)

dbSNP: rs1324892287
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002276507 SCV002564366 uncertain significance Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2021-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003101573 SCV003559778 uncertain significance Inborn genetic diseases 2021-06-15 criteria provided, single submitter clinical testing The c.1621G>T (p.V541L) alteration is located in exon 10 (coding exon 9) of the GATAD2B gene. This alteration results from a G to T substitution at nucleotide position 1621, causing the valine (V) at amino acid position 541 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002276507 SCV004050280 uncertain significance Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2023-04-11 criteria provided, single submitter clinical testing

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