ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1037C>A (p.Thr346Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002800587 SCV003033523 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003167775 SCV003880305 uncertain significance Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing The c.1037C>A (p.T346K) alteration is located in exon 14 (coding exon 14) of the PSTPIP1 gene. This alteration results from a C to A substitution at nucleotide position 1037, causing the threonine (T) at amino acid position 346 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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