ClinVar Miner

Submissions for variant NM_015324.4(RRP8):c.895A>G (p.Ile299Val)

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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 RCV004861027 SCV005489171 uncertain significance not specified 2024-08-10 criteria provided, single submitter clinical testing The c.895A>G (p.I299V) alteration is located in exon 3 (coding exon 3) of the RRP8 gene. This alteration results from a A to G substitution at nucleotide position 895, causing the isoleucine (I) at amino acid position 299 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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