ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2897T>C (p.Leu966Pro)

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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 RCV002608747 SCV002953396 uncertain significance Bloom syndrome 2022-01-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 966 of the BLM protein (p.Leu966Pro). This variant is present in population databases (rs572734846, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BLM-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004065755 SCV003640652 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-17 criteria provided, single submitter clinical testing The c.2897T>C (p.L966P) alteration is located in exon 15 (coding exon 14) of the BLM gene. This alteration results from a T to C substitution at nucleotide position 2897, causing the leucine (L) at amino acid position 966 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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