ClinVar Miner

Submissions for variant NM_001111067.4(ACVR1):c.76C>T (p.Pro26Ser)

gnomAD frequency: 0.00005  dbSNP: rs377197386
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001923880 SCV002187659 benign not provided 2023-06-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758203 SCV005345847 uncertain significance ACVR1-related disorder 2024-03-19 no assertion criteria provided clinical testing The ACVR1 c.76C>T variant is predicted to result in the amino acid substitution p.Pro26Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0028% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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