ClinVar Miner

Submissions for variant NM_198505.4(ATP13A5):c.743A>T (p.Gln248Leu)

gnomAD frequency: 0.00005  dbSNP: rs766985195
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004158105 SCV003640873 uncertain significance not specified 2022-08-31 criteria provided, single submitter clinical testing The c.743A>T (p.Q248L) alteration is located in exon 8 (coding exon 8) of the ATP13A5 gene. This alteration results from a A to T substitution at nucleotide position 743, causing the glutamine (Q) at amino acid position 248 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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