ClinVar Miner

Submissions for variant NM_031292.5(PUS7L):c.1291C>T (p.Pro431Ser)

gnomAD frequency: 0.00003  dbSNP: rs773878975
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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 RCV004162907 SCV003652043 uncertain significance not specified 2022-08-08 criteria provided, single submitter clinical testing The c.1291C>T (p.P431S) alteration is located in exon 5 (coding exon 4) of the PUS7L gene. This alteration results from a C to T substitution at nucleotide position 1291, causing the proline (P) at amino acid position 431 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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