ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.633CTC[1] (p.Ser213del)

dbSNP: rs760096957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001235338 SCV001408019 uncertain significance Bloom syndrome 2024-08-28 criteria provided, single submitter clinical testing This variant, c.636_638del, results in the deletion of 1 amino acid(s) of the BLM protein (p.Ser213del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760096957, gnomAD 0.002%). 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: 961618). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV003166451 SCV003855067 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-13 criteria provided, single submitter clinical testing The c.636_638delCTC variant (also known as p.S213del) is located in coding exon 2 of the BLM gene. This variant results from an in-frame CTC deletion at nucleotide positions 636 to 638. This results in the in-frame deletion of a serine at codon 213. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001235338 SCV002089954 uncertain significance Bloom syndrome 2021-06-01 no assertion criteria provided clinical testing

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