ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.233C>A (p.Ser78Tyr)

gnomAD frequency: 0.00001  dbSNP: rs753797551
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001788982 SCV002030268 uncertain significance Spermatogenic failure 28 2021-03-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001885209 SCV002297936 uncertain significance Fanconi anemia 2023-10-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 78 of the FANCM protein (p.Ser78Tyr). This variant is present in population databases (rs753797551, gnomAD 0.04%). 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: 1327102). 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.
GeneDx RCV002466696 SCV002762570 uncertain significance not provided 2022-06-09 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
Ambry Genetics RCV003264098 SCV003949319 uncertain significance Inborn genetic diseases 2023-03-24 criteria provided, single submitter clinical testing The c.233C>A (p.S78Y) alteration is located in exon 1 (coding exon 1) of the FANCM gene. This alteration results from a C to A substitution at nucleotide position 233, causing the serine (S) at amino acid position 78 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002466696 SCV004218739 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing The variant has not been reported in the published literature. The frequency of this variant in the general population, 0.00037 (13/35436 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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