ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.968A>G (p.Gln323Arg)

dbSNP: rs777932649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001816389 SCV002062579 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002542479 SCV003640164 uncertain significance Inborn genetic diseases 2022-09-06 criteria provided, single submitter clinical testing The c.968A>G (p.Q323R) alteration is located in exon 5 (coding exon 5) of the TRIO gene. This alteration results from a A to G substitution at nucleotide position 968, causing the glutamine (Q) at amino acid position 323 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Molecular Genetics Lab, CHRU Brest RCV003883185 SCV004697779 uncertain significance Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly criteria provided, single submitter clinical testing

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