ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe) (rs374569385)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000120247 SCV000084396 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000628657 SCV000749561 uncertain significance Bloom syndrome 2018-12-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with phenylalanine at codon 626 of the BLM protein (p.Tyr626Phe). The tyrosine residue is weakly conserved and there is a small physicochemical difference between tyrosine and phenylalanine. This variant is present in population databases (rs374569385, ExAC 0.01%). This variant has not been reported in the literature in individuals with BLM-related disease. ClinVar contains an entry for this variant (Variation ID: 133714). 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 tolerated, but 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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