ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1144G>T (p.Val382Phe)

gnomAD frequency: 0.00001  dbSNP: rs775492103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200691 SCV000255121 uncertain significance Bardet-Biedl syndrome 2021-08-12 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 382 of the BBS10 protein (p.Val382Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant has not been reported in the literature in individuals affected with BBS10-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000669185 SCV000793912 uncertain significance Bardet-Biedl syndrome 10 2017-11-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000669185 SCV002091775 uncertain significance Bardet-Biedl syndrome 10 2021-10-19 no assertion criteria provided clinical testing

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