ClinVar Miner

Submissions for variant NM_018043.7(ANO1):c.508G>A (p.Glu170Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004275449 SCV003906490 uncertain significance not specified 2023-02-22 criteria provided, single submitter clinical testing The c.508G>A (p.E170K) alteration is located in exon 3 (coding exon 3) of the ANO1 gene. This alteration results from a G to A substitution at nucleotide position 508, causing the glutamic acid (E) at amino acid position 170 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
OMIM RCV003492850 SCV004242177 pathogenic Moyamoya disease 7 2024-01-30 no assertion criteria provided literature only

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