ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3550A>T (p.Asn1184Tyr)

dbSNP: rs1463025227
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070453 SCV001235684 uncertain significance Bloom syndrome 2022-08-16 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tyrosine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 863479). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 1184 of the BLM protein (p.Asn1184Tyr).
Natera, Inc. RCV001070453 SCV002090583 uncertain significance Bloom syndrome 2020-12-02 no assertion criteria provided clinical testing

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