ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.944del (p.Gly315fs)

dbSNP: rs1473689787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000722603 SCV004560488 pathogenic not provided 2023-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly315Alafs*28) in the SLC34A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC34A3 are known to be pathogenic (PMID: 16358214, 16358215, 22159077). This variant is present in population databases (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with nephrolithiasis (PMID: 34721296). ClinVar contains an entry for this variant (Variation ID: 591424). For these reasons, this variant has been classified as Pathogenic.
Gharavi Laboratory, Columbia University RCV000722603 SCV000853734 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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