ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.875T>C (p.Val292Ala)

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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 RCV002816534 SCV003216774 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-06-19 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 292 of the PSTPIP1 protein (p.Val292Ala).
Ambry Genetics RCV002816535 SCV003730600 uncertain significance Inborn genetic diseases 2022-03-16 criteria provided, single submitter clinical testing The c.875T>C (p.V292A) alteration is located in exon 12 (coding exon 12) of the PSTPIP1 gene. This alteration results from a T to C substitution at nucleotide position 875, causing the valine (V) at amino acid position 292 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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