ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2024C>T (p.Ala675Val)

dbSNP: rs986889143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001788942 SCV002030110 uncertain significance Fanconi anemia complementation group A 2021-06-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002544307 SCV003560261 uncertain significance Inborn genetic diseases 2021-07-15 criteria provided, single submitter clinical testing The c.2024C>T (p.A675V) alteration is located in exon 23 (coding exon 23) of the FANCA gene. This alteration results from a C to T substitution at nucleotide position 2024, causing the alanine (A) at amino acid position 675 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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