ClinVar Miner

Submissions for variant NM_017619.4(RNPC3):c.48CTC[2] (p.Ser19del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004785920 SCV005401049 uncertain significance Isolated growth hormone deficiency, type 5 criteria provided, single submitter clinical testing The observed splice donor c.388+3A>G variant in SLC34A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.388+3A>G variant is present with allele frequency of 0.0008% in gnomAD Exomes. This variant has not been submitted to the ClinVar database. The SpliceAI predicts as score of 0.16 for this variant. However, additional functional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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