ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1048G>T (p.Ala350Ser)

dbSNP: rs752711108
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336664 SCV001530103 uncertain significance Nephronophthisis 12 2018-04-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001871892 SCV002285691 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 350 of the TTC21B protein (p.Ala350Ser). This variant is present in population databases (rs752711108, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1034074). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TTC21B protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002546789 SCV003715015 uncertain significance Inborn genetic diseases 2021-10-20 criteria provided, single submitter clinical testing The c.1048G>T (p.A350S) alteration is located in exon 9 (coding exon 9) of the TTC21B gene. This alteration results from a G to T substitution at nucleotide position 1048, causing the alanine (A) at amino acid position 350 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692574 SCV005187990 uncertain significance not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV005014443 SCV005653353 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-01-04 criteria provided, single submitter clinical testing

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