Submissions for variant NM_032208.3(ANTXR1):c.1553C>T (p.Ala518Val)

gnomAD frequency: 0.00253  dbSNP: rs139807657

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514359	SCV000609887	likely benign	not provided	2017-05-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514359	SCV003253596	uncertain significance	not provided	2024-12-24	criteria provided, single submitter	clinical testing	This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 518 of the ANTXR1 protein (p.Ala518Val). 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. This variant has not been reported in the literature in individuals affected with ANTXR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 445474). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316662	SCV004017416	likely benign	Capillary infantile hemangioma	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000514359	SCV005256985	likely benign	not provided		criteria provided, single submitter	not provided