ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3852T>G (p.Asp1284Glu)

gnomAD frequency: 0.00005  dbSNP: rs778247426
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764012 SCV002000263 uncertain significance not provided 2023-02-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002503223 SCV002793831 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040273 SCV004868403 uncertain significance Inborn genetic diseases 2024-01-17 criteria provided, single submitter clinical testing The c.3852T>G (p.D1284E) alteration is located in exon 14 (coding exon 14) of the FANCM gene. This alteration results from a T to G substitution at nucleotide position 3852, causing the aspartic acid (D) at amino acid position 1284 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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