ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.977C>A (p.Thr326Asn)

gnomAD frequency: 0.00013  dbSNP: rs770587249
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828262 SCV000969946 likely benign not provided 2018-03-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001213699 SCV001385345 likely benign Lafora disease 2023-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536106 SCV003580016 uncertain significance Inborn genetic diseases 2021-10-20 criteria provided, single submitter clinical testing The c.977C>A (p.T326N) alteration is located in exon 1 (coding exon 1) of the NHLRC1 gene. This alteration results from a C to A substitution at nucleotide position 977, causing the threonine (T) at amino acid position 326 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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