ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.1654C>T (p.His552Tyr)

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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 RCV002395048 SCV002703511 uncertain significance Cardiovascular phenotype 2022-01-26 criteria provided, single submitter clinical testing The p.H552Y variant (also known as c.1654C>T), located in coding exon 12 of the RASA1 gene, results from a C to T substitution at nucleotide position 1654. The histidine at codon 552 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003759691 SCV004471303 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2024-02-21 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 552 of the RASA1 protein (p.His552Tyr). 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. ClinVar contains an entry for this variant (Variation ID: 1777318). 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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