ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser) (rs147553344)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187302 SCV000240884 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CTSD gene. The N401S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N401S variant is observed in 42/10136 (0.4%) alleles from individuals of Ashkenazi Jewish background (Lek et al., 2016). The N401S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000632742 SCV000753928 likely benign Neuronal ceroid lipofuscinosis 2020-12-08 criteria provided, single submitter clinical testing

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