ClinVar Miner

Submissions for variant NM_003047.5(SLC9A1):c.176A>T (p.Asp59Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003147963 SCV003835471 uncertain significance Lichtenstein-Knorr syndrome 2022-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246149 SCV004953011 uncertain significance not specified 2023-12-20 criteria provided, single submitter clinical testing The c.176A>T (p.D59V) alteration is located in exon 1 (coding exon 1) of the SLC9A1 gene. This alteration results from a A to T substitution at nucleotide position 176, causing the aspartic acid (D) at amino acid position 59 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004790491 SCV005410489 uncertain significance not provided 2024-09-13 criteria provided, single submitter clinical testing BP4, PM2

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