ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.29C>T (p.Ala10Val)

gnomAD frequency: 0.00001  dbSNP: rs775041579
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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 RCV001037172 SCV001200572 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-07-17 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 10 of the PSTPIP1 protein (p.Ala10Val). This variant is present in population databases (rs775041579, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 836122).
Ambry Genetics RCV004031022 SCV005012946 uncertain significance Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing The c.29C>T (p.A10V) alteration is located in exon 1 (coding exon 1) of the PSTPIP1 gene. This alteration results from a C to T substitution at nucleotide position 29, causing the alanine (A) at amino acid position 10 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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