ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser)

gnomAD frequency: 0.00041  dbSNP: rs148222901
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534023 SCV000630969 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-01-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336665 SCV001530104 uncertain significance Nephronophthisis 12 2018-06-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002483379 SCV002786401 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527695 SCV003703552 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.2255A>G (p.N752S) alteration is located in exon 17 (coding exon 17) of the TTC21B gene. This alteration results from a A to G substitution at nucleotide position 2255, causing the asparagine (N) at amino acid position 752 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003942755 SCV004758267 uncertain significance TTC21B-related condition 2023-12-14 criteria provided, single submitter clinical testing The TTC21B c.2255A>G variant is predicted to result in the amino acid substitution p.Asn752Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.11% of alleles in individuals of African descent in gnomAD. Although we suspect this variant could be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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