ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.1108_1109del (p.Val370fs) (rs1085307143)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000489064 SCV000575934 pathogenic Townes-Brocks syndrome 1 2017-04-26 criteria provided, single submitter clinical testing The following ACMG criteria are met: PVS1 (Predicted null variant in gene with LOF mechanism of disease), PM2 (Absent from population databases), PP4 (Patient's phenotype is specific for gene). The patient's clinical presentation is consistent with Townes-Brockes syndrome (anal stenosis, dysplastic ears, autism, developmental delays, sleep disturbance). A renal ultrasound found small kidneys with punctate echogenic foci bilaterally, and nephrology diagnosed him with chronic kidney disease stage 3. He had a normal cardiology evaluation. Brain MRI showed delayed myelination. His mother, who carries this variant, required speech therapy as a child. She has a history of kidney stones, but had normal renal ultrasound and cardiology evaluations.

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