ClinVar Miner

Submissions for variant NM_183005.5(RPP38):c.46A>G (p.Thr16Ala)

gnomAD frequency: 0.00005  dbSNP: rs375521258
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004126073 SCV003597795 uncertain significance not specified 2024-07-16 criteria provided, single submitter clinical testing The c.46A>G (p.T16A) alteration is located in exon 3 (coding exon 1) of the RPP38 gene. This alteration results from a A to G substitution at nucleotide position 46, causing the threonine (T) at amino acid position 16 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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