ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.689TCT[1] (p.Phe231del)

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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 RCV002362375 SCV002664306 uncertain significance Cardiovascular phenotype 2015-12-01 criteria provided, single submitter clinical testing The c.692_694delTCT variant (also known as p.F231DEL) is located in coding exon 5 of the ACVRL1 gene. This variant results from an in-frame TCT deletion between nucleotide positions 692 and 694. The phenylalanine at codon 231 is deleted. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003098419 SCV003270871 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2024-07-16 criteria provided, single submitter clinical testing This variant, c.692_694del, results in the deletion of 1 amino acid(s) of the ACVRL1 protein (p.Phe231del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of hereditary hemorrhagic telangiectasia (Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1756170). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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