ClinVar Miner

Submissions for variant NM_001062.4(TCN1):c.706G>A (p.Gly236Ser)

gnomAD frequency: 0.00001  dbSNP: rs1242630410
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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 RCV000635255 SCV000756642 uncertain significance Transcobalamin I deficiency 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 236 of the TCN1 protein (p.Gly236Ser). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TCN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 529775). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV004025459 SCV003592478 uncertain significance not specified 2021-10-26 criteria provided, single submitter clinical testing The c.706G>A (p.G236S) alteration is located in exon 5 (coding exon 5) of the TCN1 gene. This alteration results from a G to A substitution at nucleotide position 706, causing the glycine (G) at amino acid position 236 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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