ClinVar Miner

Submissions for variant NM_183005.5(RPP38):c.421G>A (p.Ala141Thr)

dbSNP: rs2491130135
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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 RCV004148152 SCV003628666 uncertain significance not specified 2022-07-12 criteria provided, single submitter clinical testing The c.421G>A (p.A141T) alteration is located in exon 3 (coding exon 1) of the RPP38 gene. This alteration results from a G to A substitution at nucleotide position 421, causing the alanine (A) at amino acid position 141 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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