ClinVar Miner

Submissions for variant NM_024700.4(SNIP1):c.559C>T (p.Arg187Trp)

gnomAD frequency: 0.00012  dbSNP: rs186332019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000417531 SCV000510861 uncertain significance not provided 2016-07-13 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000417531 SCV001094752 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226291 SCV003923194 uncertain significance not specified 2023-03-16 criteria provided, single submitter clinical testing Variant summary: SNIP1 c.559C>T (p.Arg187Trp) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00038 in 251470 control chromosomes, predominantly at a frequency of 0.0026 within the Latino subpopulation in the gnomAD database. To our knowledge, no occurrence of c.559C>T in individuals affected with Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely benign and VUS. Based on the evidence outlined above, the variant was classified as uncertain significance.

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