ClinVar Miner

Submissions for variant NM_153256.4(PROSER2):c.889C>A (p.Pro297Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003885754 SCV004700304 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing PROSER2: BP4, BS2
Ambry Genetics RCV004369680 SCV005011737 uncertain significance not specified 2022-10-25 criteria provided, single submitter clinical testing The c.889C>A (p.P297T) alteration is located in exon 4 (coding exon 3) of the PROSER2 gene. This alteration results from a C to A substitution at nucleotide position 889, causing the proline (P) at amino acid position 297 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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