ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.99C>T (p.Leu33=)

gnomAD frequency: 0.00001  dbSNP: rs1435643293
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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 RCV001985454 SCV002222236 uncertain significance Joubert syndrome 20; Meckel syndrome, type 11 2024-10-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 54 of the TMEM231 protein (p.Ser54Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TMEM231-related conditions. ClinVar contains an entry for this variant (Variation ID: 1446231). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV004043758 SCV004966946 uncertain significance Inborn genetic diseases 2023-10-02 criteria provided, single submitter clinical testing The c.89C>T (p.S30L) alteration is located in exon 1 (coding exon 1) of the TMEM231 gene. This alteration results from a C to T substitution at nucleotide position 89, causing the serine (S) at amino acid position 30 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001985454 SCV005646247 uncertain significance Joubert syndrome 20; Meckel syndrome, type 11 2024-03-28 criteria provided, single submitter clinical testing

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