ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3509A>T (p.Tyr1170Phe)

dbSNP: rs746692894
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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 RCV001919355 SCV002187704 uncertain significance Bloom syndrome 2024-07-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1170 of the BLM protein (p.Tyr1170Phe). This variant is present in population databases (rs746692894, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 1422079). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BLM protein function. 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 RCV002458813 SCV002613684 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-07 criteria provided, single submitter clinical testing The p.Y1170F variant (also known as c.3509A>T), located in coding exon 17 of the BLM gene, results from an A to T substitution at nucleotide position 3509. The tyrosine at codon 1170 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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