Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001059368 | SCV001223992 | uncertain significance | Fanconi anemia | 2023-12-18 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 271 of the FANCM protein (p.Ser271Cys). This variant is present in population databases (rs767396394, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 854341). 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. |
Baylor Genetics | RCV001294028 | SCV001482793 | uncertain significance | Spermatogenic failure 28 | 2022-01-12 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV002275194 | SCV002562553 | uncertain significance | not provided | 2023-09-05 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002482040 | SCV002777077 | uncertain significance | Spermatogenic failure 28; Premature ovarian failure 15 | 2022-02-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002554418 | SCV003755527 | uncertain significance | Inborn genetic diseases | 2021-09-17 | criteria provided, single submitter | clinical testing | The c.812C>G (p.S271C) alteration is located in exon 4 (coding exon 4) of the FANCM gene. This alteration results from a C to G substitution at nucleotide position 812, causing the serine (S) at amino acid position 271 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |