ClinVar Miner

Submissions for variant NM_058192.3(RPUSD1):c.590C>T (p.Ser197Leu)

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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 RCV004854969 SCV005493713 uncertain significance not specified 2024-08-26 criteria provided, single submitter clinical testing The c.590C>T (p.S197L) alteration is located in exon 6 (coding exon 5) of the RPUSD1 gene. This alteration results from a C to T substitution at nucleotide position 590, causing the serine (S) at amino acid position 197 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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