ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.755T>C (p.Val252Ala)

dbSNP: rs970904080
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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 RCV001233197 SCV001405780 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2019-08-02 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). This variant has not been reported in the literature in individuals with PSTPIP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 252 of the PSTPIP1 protein (p.Val252Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.
Ambry Genetics RCV002563793 SCV003584527 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.755T>C (p.V252A) alteration is located in exon 11 (coding exon 11) of the PSTPIP1 gene. This alteration results from a T to C substitution at nucleotide position 755, causing the valine (V) at amino acid position 252 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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