ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.324G>T (p.Leu108Phe)

dbSNP: rs1198433222
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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 RCV001059295 SCV001223916 uncertain significance Bloom syndrome 2022-03-10 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 854279). 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 leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 108 of the BLM protein (p.Leu108Phe).
Natera, Inc. RCV001059295 SCV002089910 uncertain significance Bloom syndrome 2021-10-10 no assertion criteria provided clinical testing

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