ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.376C>G (p.Pro126Ala)

dbSNP: rs587778106
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001060998 SCV001225720 uncertain significance Bloom syndrome 2025-01-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 126 of the BLM protein (p.Pro126Ala). This variant is not present in population databases (gnomAD no frequency). 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: 133709). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV003352773 SCV004072632 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-19 criteria provided, single submitter clinical testing The c.376C>G (p.P126A) alteration is located in exon 3 (coding exon 2) of the BLM gene. This alteration results from a C to G substitution at nucleotide position 376, causing the proline (P) at amino acid position 126 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ITMI RCV000120238 SCV000084386 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV001060998 SCV001456639 uncertain significance Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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