ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3521A>G (p.Tyr1174Cys)

gnomAD frequency: 0.00004  dbSNP: rs767911807
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650296 SCV000772137 uncertain significance Hereditary spastic paraplegia 49 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1174 of the TECPR2 protein (p.Tyr1174Cys). This variant is present in population databases (rs767911807, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with TECPR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 540302). 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: "Benign"; 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 RCV004025804 SCV004963804 uncertain significance Inborn genetic diseases 2024-01-29 criteria provided, single submitter clinical testing The c.3521A>G (p.Y1174C) alteration is located in exon 16 (coding exon 15) of the TECPR2 gene. This alteration results from a A to G substitution at nucleotide position 3521, causing the tyrosine (Y) at amino acid position 1174 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000650296 SCV001454400 uncertain significance Hereditary spastic paraplegia 49 2020-04-17 no assertion criteria provided clinical testing

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