ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.551C>T (p.Thr184Met)

dbSNP: rs140295281
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001421126 SCV001623644 likely benign Carpenter syndrome 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003405654 SCV004114415 uncertain significance RAB23-related disorder 2023-12-08 criteria provided, single submitter clinical testing The RAB23 c.551C>T variant is predicted to result in the amino acid substitution p.Thr184Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.060% of alleles in individuals of East Asian descent in gnomAD, which is likely too common for an undocumented disease-causing variant. Although we suspect this variant may be benign, at this time its clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001826228 SCV002083435 likely benign RAB23-related Carpenter syndrome 2019-10-24 no assertion criteria provided clinical testing

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