ClinVar Miner

Submissions for variant NM_002353.3(TACSTD2):c.438T>G (p.Asp146Glu)

gnomAD frequency: 0.00244  dbSNP: rs115606722
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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 RCV003545434 SCV004265024 benign not provided 2023-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV005288979 SCV005952597 uncertain significance not specified 2025-01-21 criteria provided, single submitter clinical testing The c.438T>G (p.D146E) alteration is located in exon 1 (coding exon 1) of the TACSTD2 gene. This alteration results from a T to G substitution at nucleotide position 438, causing the aspartic acid (D) at amino acid position 146 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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