ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.68C>G (p.Ala23Gly)

dbSNP: rs776297241
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001062373 SCV001227169 likely benign Fanconi anemia 2023-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002555811 SCV003596744 uncertain significance Inborn genetic diseases 2022-01-10 criteria provided, single submitter clinical testing The c.68C>G (p.A23G) alteration is located in exon 1 (coding exon 1) of the FANCA gene. This alteration results from a C to G substitution at nucleotide position 68, causing the alanine (A) at amino acid position 23 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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