ClinVar Miner

Submissions for variant NM_013322.3(SNX10):c.151C>T (p.Arg51Ter)

gnomAD frequency: 0.00001  dbSNP: rs1353879401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991381 SCV001142775 likely pathogenic Autosomal recessive osteopetrosis 8 2019-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002550624 SCV002963851 pathogenic not provided 2022-06-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg51*) in the SNX10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SNX10 are known to be pathogenic (PMID: 23123320, 23280965, 25811986). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SNX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 804401).

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