ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2461G>T (p.Ala821Ser)

gnomAD frequency: 0.00004  dbSNP: rs771475755
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634494 SCV000755810 likely benign Dyskeratosis congenita 2023-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258894 SCV003949606 uncertain significance Inborn genetic diseases 2023-05-26 criteria provided, single submitter clinical testing The c.2461G>T (p.A821S) alteration is located in exon 14 (coding exon 14) of the CTC1 gene. This alteration results from a G to T substitution at nucleotide position 2461, causing the alanine (A) at amino acid position 821 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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