ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)

gnomAD frequency: 0.00001  dbSNP: rs201767993
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704165 SCV000833103 uncertain significance Neuronal ceroid lipofuscinosis 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 361 of the CLN5 protein (p.Phe361Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with clinical features of neuronal ceroid lipofuscinosis (PMID: 30264640). ClinVar contains an entry for this variant (Variation ID: 580580). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CLN5 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001585653 SCV001818130 uncertain significance not provided 2021-02-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30264640)
Genome-Nilou Lab RCV001275305 SCV002027077 uncertain significance Neuronal ceroid lipofuscinosis 5 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424701 SCV002731262 uncertain significance Inborn genetic diseases 2022-06-01 criteria provided, single submitter clinical testing The c.1082T>C (p.F361S) alteration is located in exon 4 (coding exon 4) of the CLN5 gene. This alteration results from a T to C substitution at nucleotide position 1082, causing the phenylalanine (F) at amino acid position 361 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001275305 SCV001460325 benign Neuronal ceroid lipofuscinosis 5 2020-04-16 no assertion criteria provided clinical testing

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