ClinVar Miner

Submissions for variant NM_005630.3(SLCO2A1):c.310G>T (p.Gly104Ter)

dbSNP: rs387907297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513277 SCV003525363 pathogenic not provided 2024-04-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly104*) in the SLCO2A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLCO2A1 are known to be pathogenic (PMID: 22553128, 23509104). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individuals with clinical features of primary hypertrophic osteoarthropathy (PMID: 22553128, 22906430). ClinVar contains an entry for this variant (Variation ID: 37171). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000030782 SCV000053443 pathogenic Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 2012-08-01 no assertion criteria provided literature only
OMIM RCV001527661 SCV001738779 pathogenic Hypertrophic osteoarthropathy, primary, autosomal dominant 2012-08-01 no assertion criteria provided literature only

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