ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.2483G>C (p.Cys828Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004438556 SCV004936939 uncertain significance Cardiovascular phenotype 2024-02-05 criteria provided, single submitter clinical testing The c.2483G>C (p.C828S) alteration is located in exon 18 (coding exon 18) of the RASA1 gene. This alteration results from a G to C substitution at nucleotide position 2483, causing the cysteine (C) at amino acid position 828 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005104653 SCV005819073 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2024-10-21 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 828 of the RASA1 protein (p.Cys828Ser). 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.

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