ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1100G>A (p.Ser367Asn) (rs772176483)

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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 RCV000571670 SCV000672985 likely benign Hereditary cancer-predisposing syndrome 2017-02-16 criteria provided, single submitter clinical testing Other strong data supporting benign classification;In silico models in agreement (benign)
Invitae RCV001058471 SCV001223045 uncertain significance Bloom syndrome 2019-10-31 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 367 of the BLM protein (p.Ser367Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs772176483, ExAC 0.04%). This variant has not been reported in the literature in individuals with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 485350). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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