ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.203G>C (p.Cys68Ser)

dbSNP: rs1783756475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049357 SCV001213403 uncertain significance Lafora disease 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553200 SCV003624935 uncertain significance Inborn genetic diseases 2022-05-26 criteria provided, single submitter clinical testing The c.203G>C (p.C68S) alteration is located in exon 1 (coding exon 1) of the NHLRC1 gene. This alteration results from a G to C substitution at nucleotide position 203, causing the cysteine (C) at amino acid position 68 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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