ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2975T>C (p.Phe992Ser)

gnomAD frequency: 0.00001  dbSNP: rs371418699
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017737 SCV001178867 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-31 criteria provided, single submitter clinical testing The c.2975T>C (p.F992S) alteration is located in exon 15 (coding exon 14) of the BLM gene. This alteration results from a T to C substitution at nucleotide position 2975, causing the phenylalanine (F) at amino acid position 992 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001229125 SCV001401562 uncertain significance Bloom syndrome 2024-02-10 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 992 of the BLM protein (p.Phe992Ser). This variant is present in population databases (rs371418699, gnomAD 0.01%). 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: 822402). 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 with a positive predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV001229125 SCV002779522 uncertain significance Bloom syndrome 2022-03-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001229125 SCV001454869 uncertain significance Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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