ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.395C>T (p.Ser132Leu)

gnomAD frequency: 0.00001  dbSNP: rs777409558
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001979022 SCV002217859 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-09-16 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PSTPIP1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1441089). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 132 of the PSTPIP1 protein (p.Ser132Leu).
Ambry Genetics RCV004656767 SCV005157933 uncertain significance Inborn genetic diseases 2024-06-18 criteria provided, single submitter clinical testing The c.395C>T (p.S132L) alteration is located in exon 6 (coding exon 6) of the PSTPIP1 gene. This alteration results from a C to T substitution at nucleotide position 395, causing the serine (S) at amino acid position 132 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004694026 SCV005193945 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004753447 SCV005360975 uncertain significance PSTPIP1-related disorder 2024-04-03 no assertion criteria provided clinical testing The PSTPIP1 c.395C>T variant is predicted to result in the amino acid substitution p.Ser132Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0011% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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