ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1430C>G (p.Pro477Arg)

gnomAD frequency: 0.00010  dbSNP: rs145720047
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002515864 SCV003251773 likely benign Multiple congenital exostosis 2023-12-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905151 SCV004718473 uncertain significance EXT1-related disorder 2023-10-27 criteria provided, single submitter clinical testing The EXT1 c.1430C>G variant is predicted to result in the amino acid substitution p.Pro477Arg. This variant has been reported in a patient with chordoma (Yepes et al. 2021. PubMed ID: 34070849); however, this variant was also found in an individual from a healthy, ancestrally diverse cohort (Table S1 in Bodian et al. 2014. PubMed ID: 24728327). This variant is reported in 0.039% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-118832021-G-C) and has been interpreted as likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/134201/. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
ITMI RCV000120874 SCV000085042 not provided not specified 2013-09-19 no assertion provided reference population

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