ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.524A>G (p.Lys175Arg)

gnomAD frequency: 0.00003  dbSNP: rs772882799
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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 RCV003281234 SCV003957519 uncertain significance Inborn genetic diseases 2023-04-05 criteria provided, single submitter clinical testing The c.524A>G (p.K175R) alteration is located in exon 6 (coding exon 5) of the MLC1 gene. This alteration results from a A to G substitution at nucleotide position 524, causing the lysine (K) at amino acid position 175 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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