ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.219_230del (p.Asn73_Ile77delinsLys)

dbSNP: rs2133396668
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001867352 SCV002135156 uncertain significance Juvenile polyposis syndrome 2023-05-02 criteria provided, single submitter clinical testing This variant, c.219_230del, is a complex sequence change that results in the deletion of 5 and insertion of 1 amino acid(s) in the BMPR1A protein (p.Asn73_Ile77delinsLys). This variant also falls at the last nucleotide of exon 4. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with juvenile polyposis (Invitae). ClinVar contains an entry for this variant (Variation ID: 1368146). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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