ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.548A>G (p.Asn183Ser)

dbSNP: rs758691430
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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 RCV003282783 SCV003981286 uncertain significance Inborn genetic diseases 2023-05-24 criteria provided, single submitter clinical testing The c.548A>G (p.N183S) alteration is located in exon 7 (coding exon 6) of the MLC1 gene. This alteration results from a A to G substitution at nucleotide position 548, causing the asparagine (N) at amino acid position 183 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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