ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1439G>T (p.Arg480Leu)

dbSNP: rs535109719
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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 RCV000216078 SCV000278565 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-25 criteria provided, single submitter clinical testing The c.1439G>T (p.R480L) alteration is located in exon 12 (coding exon 10) of the BMPR1A gene. This alteration results from a G to T substitution at nucleotide position 1439, causing the arginine (R) at amino acid position 480 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002229336 SCV000820474 uncertain significance Juvenile polyposis syndrome 2018-02-01 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been reported in an individual underwent Lynch syndrome testing (PMID: 25980754). ClinVar contains an entry for this variant (Variation ID: 234070). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with leucine at codon 480 of the BMPR1A protein (p.Arg480Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine.

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