ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.812C>G (p.Ser271Cys)

gnomAD frequency: 0.00001  dbSNP: rs767396394
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
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].
GeneDx 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, 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.