ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2984A>G (p.Tyr995Cys)

dbSNP: rs779755994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017788 SCV001178933 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-23 criteria provided, single submitter clinical testing The p.Y995C variant (also known as c.2984A>G), located in coding exon 14 of the BLM gene, results from an A to G substitution at nucleotide position 2984. The tyrosine at codon 995 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001344889 SCV001538974 uncertain significance Bloom syndrome 2023-03-03 criteria provided, single submitter clinical testing This variant is present in population databases (rs779755994, gnomAD 0.0009%). 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: 822430). 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) performed at Invitae indicates that this missense variant is expected to disrupt 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. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 995 of the BLM protein (p.Tyr995Cys).
Natera, Inc. RCV001344889 SCV002090498 uncertain significance Bloom syndrome 2020-11-14 no assertion criteria provided clinical testing

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