Submissions for variant NM_002890.3(RASA1):c.2872C>T (p.Pro958Ser)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003761117	SCV004554523	uncertain significance	Capillary malformation-arteriovenous malformation syndrome	2023-12-03	criteria provided, single submitter	clinical testing	This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 958 of the RASA1 protein (p.Pro958Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RASA1-related conditions. 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 disruptive. 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.
Ambry Genetics	RCV004661763	SCV005163131	uncertain significance	Cardiovascular phenotype	2024-05-21	criteria provided, single submitter	clinical testing	The p.P958S variant (also known as c.2872C>T), located in coding exon 23 of the RASA1 gene, results from a C to T substitution at nucleotide position 2872. The proline at codon 958 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.