ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4102T>C (p.Ser1368Pro) (rs587778104)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000120234 SCV000084382 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000806844 SCV000946863 uncertain significance Bloom syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 1368 of the BLM protein (p.Ser1368Pro). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs587778104, ExAC 0.02%). This variant has not been reported in the literature in individuals with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 133705). 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 proline 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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